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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CHMP1A | Human | pontocerebellar hypoplasia type 8 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | CHMP1A | Human | pontocerebellar hypoplasia type 8 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
2. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
4. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:7584044 | PMID:8863740 | PMID:8889548 | PMID:9837962 | PMID:11559747 | PMID:11559748 | PMID:12445808 | PMID:12477932 | PMID:14505569 | PMID:14505570 | PMID:14519844 | PMID:15489334 |
PMID:15604093 | PMID:16505166 | PMID:16554368 | PMID:16730941 | PMID:16760479 | PMID:17353931 | PMID:17711858 | PMID:17928862 | PMID:17984323 | PMID:18787405 | PMID:19056867 | PMID:19129479 |
PMID:19129480 | PMID:19234443 | PMID:19302785 | PMID:19640981 | PMID:20588296 | PMID:20616062 | PMID:21674799 | PMID:21705858 | PMID:21873635 | PMID:21988832 | PMID:22261332 | PMID:22658674 |
PMID:22939629 | PMID:23023333 | PMID:23045692 | PMID:23273016 | PMID:23376485 | PMID:23456168 | PMID:23748770 | PMID:24482116 | PMID:24705354 | PMID:24878737 | PMID:25959826 | PMID:25963833 |
PMID:26040712 | PMID:26040713 | PMID:26186194 | PMID:26496610 | PMID:26549023 | PMID:28077445 | PMID:28514442 | PMID:28515276 | PMID:29247346 | PMID:29509190 | PMID:30044992 | PMID:30471916 |
PMID:30572598 | PMID:31048545 | PMID:31091453 | PMID:31324722 | PMID:31540324 | PMID:32296183 | PMID:32814053 | PMID:33001583 | PMID:33545068 | PMID:33637726 | PMID:33644029 | PMID:33961781 |
PMID:34349018 | PMID:34426578 | PMID:34672954 | PMID:35182466 | PMID:35271311 | PMID:35831314 | PMID:35944360 | PMID:36107470 | PMID:36244648 |
CHMP1A (Homo sapiens - human) |
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Chmp1a (Mus musculus - house mouse) |
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Chmp1a (Rattus norvegicus - Norway rat) |
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Chmp1a (Chinchilla lanigera - long-tailed chinchilla) |
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CHMP1A (Pan paniscus - bonobo/pygmy chimpanzee) |
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CHMP1A (Canis lupus familiaris - dog) |
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Chmp1a (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CHMP1A (Sus scrofa - pig) |
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CHMP1A (Chlorocebus sabaeus - green monkey) |
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Chmp1a (Heterocephalus glaber - naked mole-rat) |
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Variants in CHMP1A
198 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_002768.5(CHMP1A):c.28-13G>A | single nucleotide variant | Pontocerebellar hypoplasia type 8 [RCV000033060] | Chr16:89651659 [GRCh38] Chr16:89718067 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) | single nucleotide variant | CHMP1A-related disorder [RCV004757955]|Pontocerebellar hypoplasia type 8 [RCV000033059]|not provided [RCV000321930] | Chr16:89651586 [GRCh38] Chr16:89717994 [GRCh37] Chr16:16q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 | copy number gain | See cases [RCV000050840] | Chr16:78816291..90081985 [GRCh38] Chr16:78850188..90148393 [GRCh37] Chr16:77407689..88675894 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 | copy number gain | See cases [RCV000052422] | Chr16:70514631..90081985 [GRCh38] Chr16:70548534..90148393 [GRCh37] Chr16:69106035..88675894 [NCBI36] Chr16:16q22.1-24.3 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 | copy number gain | See cases [RCV000052421] | Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q24.3(chr16:89570545-89814613)x1 | copy number loss | See cases [RCV000052021] | Chr16:89570545..89814613 [GRCh38] Chr16:89636953..89881021 [GRCh37] Chr16:88164454..88408522 [NCBI36] Chr16:16q24.3 |
uncertain significance |
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 | copy number gain | See cases [RCV000052423] | Chr16:76873569..90081985 [GRCh38] Chr16:76907466..90148393 [GRCh37] Chr16:75464967..88675894 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 | copy number gain | See cases [RCV000052424] | Chr16:82173150..90081985 [GRCh38] Chr16:82206755..90148393 [GRCh37] Chr16:80764256..88675894 [NCBI36] Chr16:16q23.3-24.3 |
pathogenic |
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] | Chr16:84707538..90081985 [GRCh38] Chr16:84741144..90148393 [GRCh37] Chr16:83298645..88675894 [NCBI36] Chr16:16q24.1-24.3 |
pathogenic |
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 | copy number gain | See cases [RCV000052428] | Chr16:87853401..90081985 [GRCh38] Chr16:87887007..90148393 [GRCh37] Chr16:86444508..88675894 [NCBI36] Chr16:16q24.2-24.3 |
pathogenic |
NM_002768.5(CHMP1A):c.382-8G>T | single nucleotide variant | not provided [RCV000893859]|not specified [RCV000116704] | Chr16:89646722 [GRCh38] Chr16:89713130 [GRCh37] Chr16:16q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_002768.5(CHMP1A):c.51G>A (p.Lys17=) | single nucleotide variant | CHMP1A-related disorder [RCV003952567]|Pontocerebellar hypoplasia type 8 [RCV001334084]|not provided [RCV000963149]|not specified [RCV000116705] | Chr16:89651623 [GRCh38] Chr16:89718031 [GRCh37] Chr16:16q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002768.5(CHMP1A):c.27+10G>A | single nucleotide variant | not provided [RCV000842497]|not specified [RCV000175735] | Chr16:89653894 [GRCh38] Chr16:89720302 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 | copy number gain | See cases [RCV000135659] | Chr16:83988570..90081985 [GRCh38] Chr16:84022175..90148393 [GRCh37] Chr16:82579676..88675894 [NCBI36] Chr16:16q23.3-24.3 |
likely pathogenic |
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 | copy number gain | See cases [RCV000136898] | Chr16:80946659..90081985 [GRCh38] Chr16:80980556..90148393 [GRCh37] Chr16:79538057..88675894 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 16q24.3(chr16:89608619-89821113)x1 | copy number loss | See cases [RCV000137427] | Chr16:89608619..89821113 [GRCh38] Chr16:89675027..89887521 [GRCh37] Chr16:88202528..88415022 [NCBI36] Chr16:16q24.3 |
uncertain significance |
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 | copy number gain | See cases [RCV000137495] | Chr16:70749398..90096995 [GRCh38] Chr16:70783301..90163403 [GRCh37] Chr16:69340802..88690904 [NCBI36] Chr16:16q22.1-24.3 |
pathogenic |
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 | copy number gain | See cases [RCV000138161] | Chr16:87848216..90096995 [GRCh38] Chr16:87881822..90163403 [GRCh37] Chr16:86439323..88690904 [NCBI36] Chr16:16q24.2-24.3 |
likely pathogenic |
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 | copy number gain | See cases [RCV000137980] | Chr16:83478453..89932910 [GRCh38] Chr16:83512058..89999318 [GRCh37] Chr16:82069559..88526819 [NCBI36] Chr16:16q23.3-24.3 |
likely pathogenic |
GRCh38/hg38 16q24.3(chr16:89481626-89665765)x3 | copy number gain | See cases [RCV000138278] | Chr16:89481626..89665765 [GRCh38] Chr16:89548034..89732173 [GRCh37] Chr16:88075535..88259674 [NCBI36] Chr16:16q24.3 |
uncertain significance |
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 | copy number gain | See cases [RCV000139426] | Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 | copy number gain | See cases [RCV000139302] | Chr16:75377981..90081992 [GRCh38] Chr16:75411879..90148400 [GRCh37] Chr16:73969380..88675901 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q24.3(chr16:89586679-89648483)x3 | copy number gain | See cases [RCV000140348] | Chr16:89586679..89648483 [GRCh38] Chr16:89653087..89714891 [GRCh37] Chr16:88180588..88242392 [NCBI36] Chr16:16q24.3 |
likely benign |
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 | copy number gain | See cases [RCV000139658] | Chr16:85552976..90096995 [GRCh38] Chr16:85586582..90163403 [GRCh37] Chr16:84144083..88690904 [NCBI36] Chr16:16q24.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 | copy number gain | See cases [RCV000141128] | Chr16:80717291..90096662 [GRCh38] Chr16:80751188..90163070 [GRCh37] Chr16:79308689..88690571 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic |
GRCh38/hg38 16q24.3(chr16:89610227-89829851)x1 | copy number loss | See cases [RCV000141836] | Chr16:89610227..89829851 [GRCh38] Chr16:89676635..89896259 [GRCh37] Chr16:88204136..88423760 [NCBI36] Chr16:16q24.3 |
uncertain significance |
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 | copy number gain | See cases [RCV000141700] | Chr16:76336203..90088654 [GRCh38] Chr16:76370100..90155062 [GRCh37] Chr16:74927601..88682563 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 | copy number gain | See cases [RCV000142698] | Chr16:80067315..90057871 [GRCh38] Chr16:80101212..90124279 [GRCh37] Chr16:78658713..88651780 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 | copy number gain | See cases [RCV000142578] | Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 | copy number gain | See cases [RCV000143425] | Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3 |
pathogenic |
NM_002768.5(CHMP1A):c.198G>A (p.Ala66=) | single nucleotide variant | CHMP1A-related disorder [RCV003947515]|not provided [RCV000724421]|not specified [RCV000178183] | Chr16:89649405 [GRCh38] Chr16:89649405..89649406 [GRCh38] Chr16:89715813 [GRCh37] Chr16:89715813..89715814 [GRCh37] Chr16:16q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_002768.5(CHMP1A):c.210C>T (p.Asp70=) | single nucleotide variant | CHMP1A-related disorder [RCV003927774]|not provided [RCV000916510]|not specified [RCV000194413] | Chr16:89649393 [GRCh38] Chr16:89715801 [GRCh37] Chr16:16q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 | copy number gain | See cases [RCV000240108] | Chr16:74872514..90274440 [GRCh37] Chr16:16q23.1-24.3 |
pathogenic |
t(5;16)(p15.31;q23.1) | translocation | not provided [RCV000203391] | Chr5:1..8180513 [GRCh37] Chr16:76935310..90354753 [GRCh37] Chr5:5p15.33-15.31 Chr16:16q23.1-24.3 |
likely pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 | copy number loss | Breast ductal adenocarcinoma [RCV000207138] | Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3 |
uncertain significance |
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 | copy number loss | Breast ductal adenocarcinoma [RCV000207182] | Chr16:72107834..90142285 [GRCh37] Chr16:16q22.2-24.3 |
uncertain significance |
Single allele | complex | Breast ductal adenocarcinoma [RCV000207314] | Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3 |
uncertain significance |
GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3 | copy number gain | See cases [RCV000240330] | Chr16:89696893..90103214 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3 | copy number gain | See cases [RCV000240352] | Chr16:88601532..89713753 [GRCh37] Chr16:16q24.2-24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.114G>A (p.Leu38=) | single nucleotide variant | Inborn genetic diseases [RCV003165771]|not provided [RCV000325943] | Chr16:89649489 [GRCh38] Chr16:89715897 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.253-102G>A | single nucleotide variant | not provided [RCV001565740] | Chr16:89647433 [GRCh38] Chr16:89713841 [GRCh37] Chr16:16q24.3 |
likely benign |
NC_000016.10:g.89657755C>A | single nucleotide variant | not provided [RCV001571525] | Chr16:89657755 [GRCh38] Chr16:89724163 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.7+286C>G | single nucleotide variant | not provided [RCV001546851] | Chr16:89657296 [GRCh38] Chr16:89723704 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.*392C>G | single nucleotide variant | not provided [RCV001575052] | Chr16:89645674 [GRCh38] Chr16:89712082 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.108C>T (p.Ala36=) | single nucleotide variant | Inborn genetic diseases [RCV000624901]|not specified [RCV004586837] | Chr16:89649495 [GRCh38] Chr16:89715903 [GRCh37] Chr16:16q24.3 |
pathogenic|uncertain significance |
NM_002768.5(CHMP1A):c.33G>A (p.Thr11=) | single nucleotide variant | CHMP1A-related disorder [RCV003953045]|not provided [RCV000919528] | Chr16:89651641 [GRCh38] Chr16:89718049 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.147C>T (p.Ala49=) | single nucleotide variant | not provided [RCV000593267] | Chr16:89649456 [GRCh38] Chr16:89715864 [GRCh37] Chr16:16q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_002768.5(CHMP1A):c.558G>C (p.Gln186His) | single nucleotide variant | not provided [RCV000732733] | Chr16:89646538 [GRCh38] Chr16:89712946 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.105+168GTTT[8] | microsatellite | not provided [RCV001572092] | Chr16:89651373..89651374 [GRCh38] Chr16:89717781..89717782 [GRCh37] Chr16:16q24.3 |
likely benign |
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 | copy number gain | See cases [RCV000446110] | Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 | copy number gain | See cases [RCV000446684] | Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_002768.5(CHMP1A):c.-31C>T | single nucleotide variant | not provided [RCV004710026]|not specified [RCV000423591] | Chr16:89657619 [GRCh38] Chr16:89724027 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.*95G>A | single nucleotide variant | CHMP1A-related disorder [RCV003972623]|not provided [RCV004711065]|not specified [RCV000427386] | Chr16:89645971 [GRCh38] Chr16:89712379 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.507C>T (p.Pro169=) | single nucleotide variant | CHMP1A-related disorder [RCV003912696]|not provided [RCV000972320] | Chr16:89646589 [GRCh38] Chr16:89712997 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
NM_002768.5(CHMP1A):c.*100T>G | single nucleotide variant | not provided [RCV004710008]|not specified [RCV000442032] | Chr16:89645966 [GRCh38] Chr16:89712374 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.106-11G>C | single nucleotide variant | not provided [RCV002062374]|not specified [RCV000421120] | Chr16:89649508 [GRCh38] Chr16:89715916 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.7+13G>T | single nucleotide variant | not provided [RCV002522600]|not specified [RCV000421451] | Chr16:89657569 [GRCh38] Chr16:89723977 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
NM_002768.5(CHMP1A):c.*94C>T | single nucleotide variant | not provided [RCV004710007]|not specified [RCV000432697] | Chr16:89645972 [GRCh38] Chr16:89712380 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.*7C>T | single nucleotide variant | not provided [RCV004705577]|not specified [RCV000430116] | Chr16:89646059 [GRCh38] Chr16:89712467 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.408C>T (p.Ala136=) | single nucleotide variant | Inborn genetic diseases [RCV002522549]|not provided [RCV000913316]|not specified [RCV000430349] | Chr16:89646688 [GRCh38] Chr16:89713096 [GRCh37] Chr16:16q24.3 |
likely benign|uncertain significance |
NM_002768.5(CHMP1A):c.570-20G>C | single nucleotide variant | not provided [RCV002058914]|not specified [RCV000444868] | Chr16:89646107 [GRCh38] Chr16:89712515 [GRCh37] Chr16:16q24.3 |
benign |
GRCh37/hg19 16q24.3(chr16:88985997-89962916)x3 | copy number gain | See cases [RCV000447971] | Chr16:88985997..89962916 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.346G>C (p.Glu116Gln) | single nucleotide variant | not provided [RCV000486889] | Chr16:89647238 [GRCh38] Chr16:89713646 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 | copy number gain | See cases [RCV000511606] | Chr16:84937273..89836905 [GRCh37] Chr16:16q24.1-24.3 |
likely pathogenic |
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) | single nucleotide variant | Pontocerebellar hypoplasia type 1A [RCV000626145]|Pontocerebellar hypoplasia type 8 [RCV004595520] | Chr16:89647238 [GRCh38] Chr16:89713646 [GRCh37] Chr16:16q24.3 |
pathogenic|likely pathogenic|uncertain significance |
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) | copy number gain | not provided [RCV000767619] | Chr16:82761333..90055381 [GRCh37] Chr16:16q23.3-24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) | copy number gain | See cases [RCV000511296] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 | copy number gain | See cases [RCV000512138] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] | Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
GRCh37/hg19 16q24.3(chr16:89689822-89726926)x3 | copy number gain | not specified [RCV000515719] | Chr16:89689822..89726926 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.253-17G>A | single nucleotide variant | not provided [RCV002063238]|not specified [RCV000610743] | Chr16:89647348 [GRCh38] Chr16:89713756 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.7+17G>A | single nucleotide variant | not specified [RCV000611440] | Chr16:89657565 [GRCh38] Chr16:89723973 [GRCh37] Chr16:16q24.3 |
likely benign |
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 | copy number loss | Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] | Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 | copy number gain | See cases [RCV000512511] | Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3 |
pathogenic |
NM_002768.5(CHMP1A):c.204C>T (p.Arg68=) | single nucleotide variant | Pontocerebellar hypoplasia type 8 [RCV001335648]|not provided [RCV000909755] | Chr16:89649399 [GRCh38] Chr16:89715807 [GRCh37] Chr16:16q24.3 |
likely benign|uncertain significance |
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 | copy number gain | See cases [RCV000512468] | Chr16:83001540..90155062 [GRCh37] Chr16:16q23.3-24.3 |
likely pathogenic |
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 | copy number gain | See cases [RCV000512440] | Chr16:85838574..90155062 [GRCh37] Chr16:16q24.1-24.3 |
pathogenic |
NM_002768.5(CHMP1A):c.205G>A (p.Val69Ile) | single nucleotide variant | not provided [RCV001760514] | Chr16:89649398 [GRCh38] Chr16:89715806 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 | copy number gain | not provided [RCV000683845] | Chr16:79400436..90155062 [GRCh37] Chr16:16q23.2-24.3 |
pathogenic |
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 | copy number gain | not provided [RCV000683831] | Chr16:72515938..90155062 [GRCh37] Chr16:16q22.2-24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 | copy number gain | not provided [RCV000738918] | Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 | copy number gain | not provided [RCV000738915] | Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 | copy number gain | not provided [RCV000738917] | Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q24.3(chr16:89273883-89900237)x3 | copy number gain | not provided [RCV000739305] | Chr16:89273883..89900237 [GRCh37] Chr16:16q24.3 |
benign |
GRCh37/hg19 16q24.3(chr16:89712889-89714818)x1 | copy number loss | not provided [RCV000739307] | Chr16:89712889..89714818 [GRCh37] Chr16:16q24.3 |
benign |
NC_000016.10:g.89657860C>T | single nucleotide variant | not provided [RCV001541856] | Chr16:89657860 [GRCh38] Chr16:89724268 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.28-37C>T | single nucleotide variant | not provided [RCV001547837] | Chr16:89651683 [GRCh38] Chr16:89718091 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.106-316A>G | single nucleotide variant | not provided [RCV001574904] | Chr16:89649813 [GRCh38] Chr16:89716221 [GRCh37] Chr16:16q24.3 |
likely benign |
NC_000016.10:g.89657758T>C | single nucleotide variant | not provided [RCV001547206] | Chr16:89657758 [GRCh38] Chr16:89724166 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.7+261C>A | single nucleotide variant | not provided [RCV001581876] | Chr16:89657321 [GRCh38] Chr16:89723729 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.253-275T>C | single nucleotide variant | not provided [RCV001574643] | Chr16:89647606 [GRCh38] Chr16:89714014 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.253-242C>T | single nucleotide variant | not provided [RCV001576023] | Chr16:89647573 [GRCh38] Chr16:89713981 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.253-283A>G | single nucleotide variant | not provided [RCV000826863] | Chr16:89647614 [GRCh38] Chr16:89647614..89647615 [GRCh38] Chr16:89714022 [GRCh37] Chr16:89714022..89714023 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.252+5G>T | single nucleotide variant | Intellectual disability [RCV000856701] | Chr16:89649346 [GRCh38] Chr16:89715754 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.253-272A>G | single nucleotide variant | not provided [RCV000833127] | Chr16:89647603 [GRCh38] Chr16:89714011 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.252+111C>T | single nucleotide variant | not provided [RCV000839839] | Chr16:89649240 [GRCh38] Chr16:89649240..89649241 [GRCh38] Chr16:89715648 [GRCh37] Chr16:89715648..89715649 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.253-250T>C | single nucleotide variant | not provided [RCV000839840] | Chr16:89647581 [GRCh38] Chr16:89713989 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.253-241A>G | single nucleotide variant | not provided [RCV000839842] | Chr16:89647572 [GRCh38] Chr16:89713980 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.253-230A>G | single nucleotide variant | not provided [RCV000839844] | Chr16:89647561 [GRCh38] Chr16:89713969 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.382-52G>A | single nucleotide variant | not provided [RCV000839847] | Chr16:89646766 [GRCh38] Chr16:89713174 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.105+233T>C | single nucleotide variant | not provided [RCV000839965] | Chr16:89651336 [GRCh38] Chr16:89717744 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.253-199A>G | single nucleotide variant | not provided [RCV000839970] | Chr16:89647530 [GRCh38] Chr16:89647530..89647531 [GRCh38] Chr16:89713938 [GRCh37] Chr16:89713938..89713939 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.382-7C>T | single nucleotide variant | not provided [RCV000937870] | Chr16:89646721 [GRCh38] Chr16:89713129 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.253-26C>T | single nucleotide variant | not provided [RCV000838615] | Chr16:89647357 [GRCh38] Chr16:89713765 [GRCh37] Chr16:16q24.3 |
likely benign |
GRCh37/hg19 16q24.3(chr16:89662327-89927634)x1 | copy number loss | not provided [RCV000849906] | Chr16:89662327..89927634 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NC_000016.10:g.89653894C>T | single nucleotide variant | not provided [RCV000842497] | Chr16:89720302 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.253-317C>T | single nucleotide variant | not provided [RCV000826862] | Chr16:89647648 [GRCh38] Chr16:89714056 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.105+266C>T | single nucleotide variant | not provided [RCV000826861] | Chr16:89651303 [GRCh38] Chr16:89717711 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.106-235A>G | single nucleotide variant | not provided [RCV000838768] | Chr16:89649732 [GRCh38] Chr16:89716140 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.252+95G>A | single nucleotide variant | not provided [RCV000838769] | Chr16:89649256 [GRCh38] Chr16:89715664 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.106-317C>A | single nucleotide variant | not provided [RCV000827850] | Chr16:89649814 [GRCh38] Chr16:89649814..89649815 [GRCh38] Chr16:89716222 [GRCh37] Chr16:89716222..89716223 [GRCh37] Chr16:16q24.3 |
benign |
GRCh37/hg19 16q24.3(chr16:89688616-89828326)x1 | copy number loss | not provided [RCV000847869] | Chr16:89688616..89828326 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.3(chr16:89666802-89760599)x3 | copy number gain | not provided [RCV000849059] | Chr16:89666802..89760599 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.3(chr16:89443552-89726484)x3 | copy number gain | not provided [RCV000845847] | Chr16:89443552..89726484 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.559C>G (p.Leu187Val) | single nucleotide variant | Pontocerebellar hypoplasia type 8 [RCV004813535] | Chr16:89646537 [GRCh38] Chr16:89712945 [GRCh37] |
uncertain significance |
NM_002768.5(CHMP1A):c.541C>T (p.Arg181Cys) | single nucleotide variant | not provided [RCV004776796] | Chr16:89646555 [GRCh38] Chr16:89712963 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.570-128T>G | single nucleotide variant | not provided [RCV001575700] | Chr16:89646215 [GRCh38] Chr16:89712623 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.253-250T>G | single nucleotide variant | not provided [RCV001547741] | Chr16:89647581 [GRCh38] Chr16:89713989 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.253-306G>C | single nucleotide variant | not provided [RCV001578124] | Chr16:89647637 [GRCh38] Chr16:89714045 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.405G>A (p.Ser135=) | single nucleotide variant | Inborn genetic diseases [RCV003251986]|not provided [RCV003427717] | Chr16:89646691 [GRCh38] Chr16:89713099 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.*436T>G | single nucleotide variant | not provided [RCV001555352] | Chr16:89645630 [GRCh38] Chr16:89712038 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.569+202G>A | single nucleotide variant | not provided [RCV001550404] | Chr16:89646325 [GRCh38] Chr16:89712733 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.253-292C>G | single nucleotide variant | not provided [RCV001589440] | Chr16:89647623 [GRCh38] Chr16:89714031 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.8-150dup | duplication | not provided [RCV001557736] | Chr16:89654065..89654066 [GRCh38] Chr16:89720473..89720474 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.252+63G>A | single nucleotide variant | not provided [RCV001557843] | Chr16:89649288 [GRCh38] Chr16:89715696 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.569+154G>A | single nucleotide variant | not provided [RCV001571980] | Chr16:89646373 [GRCh38] Chr16:89712781 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.382-103dup | duplication | not provided [RCV001552233] | Chr16:89646815..89646816 [GRCh38] Chr16:89713223..89713224 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.171C>T (p.Asn57=) | single nucleotide variant | not provided [RCV000915042] | Chr16:89649432 [GRCh38] Chr16:89715840 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.258C>G (p.Thr86=) | single nucleotide variant | not provided [RCV000917216] | Chr16:89647326 [GRCh38] Chr16:89713734 [GRCh37] Chr16:16q24.3 |
likely benign |
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 | copy number gain | not provided [RCV001249359] | Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3 |
not provided |
NM_002768.5(CHMP1A):c.213A>G (p.Ala71=) | single nucleotide variant | CHMP1A-related disorder [RCV004731055]|not provided [RCV000891034] | Chr16:89649390 [GRCh38] Chr16:89715798 [GRCh37] Chr16:16q24.3 |
benign|likely benign |
NM_002768.5(CHMP1A):c.106-142C>T | single nucleotide variant | not provided [RCV001561731] | Chr16:89649639 [GRCh38] Chr16:89716047 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.252+88A>G | single nucleotide variant | not provided [RCV001561801] | Chr16:89649263 [GRCh38] Chr16:89715671 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.8-165C>A | single nucleotide variant | not provided [RCV001569623] | Chr16:89654088 [GRCh38] Chr16:89720496 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.380C>G (p.Ser127Trp) | single nucleotide variant | Inborn genetic diseases [RCV004039322]|not provided [RCV001562204] | Chr16:89647204 [GRCh38] Chr16:89713612 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.253-54G>A | single nucleotide variant | not provided [RCV001577239] | Chr16:89647385 [GRCh38] Chr16:89713793 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.381+36G>C | single nucleotide variant | not provided [RCV001556871] | Chr16:89647167 [GRCh38] Chr16:89713575 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.253-208T>C | single nucleotide variant | not provided [RCV001661039] | Chr16:89647539 [GRCh38] Chr16:89713947 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.106-271C>T | single nucleotide variant | not provided [RCV001568255] | Chr16:89649768 [GRCh38] Chr16:89716176 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.28-169C>T | single nucleotide variant | not provided [RCV001558087] | Chr16:89651815 [GRCh38] Chr16:89718223 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.106-179A>G | single nucleotide variant | not provided [RCV001576279] | Chr16:89649676 [GRCh38] Chr16:89716084 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.106-190A>G | single nucleotide variant | not provided [RCV001593358] | Chr16:89649687 [GRCh38] Chr16:89716095 [GRCh37] Chr16:16q24.3 |
likely benign |
NC_000016.10:g.89657905C>G | single nucleotide variant | not provided [RCV001619469] | Chr16:89657905 [GRCh38] Chr16:89724313 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.252+163_252+193del | deletion | not provided [RCV001545599] | Chr16:89649158..89649188 [GRCh38] Chr16:89715566..89715596 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.-94_-81del | deletion | not provided [RCV001590697] | Chr16:89657669..89657682 [GRCh38] Chr16:89724077..89724090 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.*336A>C | single nucleotide variant | not provided [RCV001596395] | Chr16:89645730 [GRCh38] Chr16:89712138 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.381+48G>C | single nucleotide variant | not provided [RCV001637900] | Chr16:89647155 [GRCh38] Chr16:89713563 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.252+154_252+218del | deletion | not provided [RCV001635729] | Chr16:89649133..89649197 [GRCh38] Chr16:89715541..89715605 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.252+143C>T | single nucleotide variant | not provided [RCV001713166] | Chr16:89649208 [GRCh38] Chr16:89715616 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.569+46G>A | single nucleotide variant | not provided [RCV001708291] | Chr16:89646481 [GRCh38] Chr16:89712889 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.7+120C>T | single nucleotide variant | not provided [RCV001714532] | Chr16:89657462 [GRCh38] Chr16:89723870 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.253-270G>A | single nucleotide variant | not provided [RCV001689545] | Chr16:89647601 [GRCh38] Chr16:89714009 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.382-175G>T | single nucleotide variant | not provided [RCV001589803] | Chr16:89646889 [GRCh38] Chr16:89713297 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.106-102C>T | single nucleotide variant | not provided [RCV001580908] | Chr16:89649599 [GRCh38] Chr16:89716007 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.105+105G>A | single nucleotide variant | not provided [RCV001725294] | Chr16:89651464 [GRCh38] Chr16:89717872 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.252+37C>T | single nucleotide variant | not provided [RCV001590100] | Chr16:89649314 [GRCh38] Chr16:89715722 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.381+217G>T | single nucleotide variant | not provided [RCV001652566] | Chr16:89646986 [GRCh38] Chr16:89713394 [GRCh37] Chr16:16q24.3 |
benign |
GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3 | copy number gain | not provided [RCV001259286] | Chr16:89499489..90125146 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.3(chr16:89156662-90023446)x3 | copy number gain | not provided [RCV001258667] | Chr16:89156662..90023446 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.277A>G (p.Thr93Ala) | single nucleotide variant | Pontocerebellar hypoplasia type 8 [RCV001334083] | Chr16:89647307 [GRCh38] Chr16:89713715 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3 | copy number gain | not provided [RCV001258663] | Chr16:88222732..90155062 [GRCh37] Chr16:16q24.2-24.3 |
uncertain significance |
GRCh37/hg19 16q24.3(chr16:89620873-89881041) | copy number loss | Fanconi anemia complementation group A [RCV001535965] | Chr16:89620873..89881041 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_002768.5(CHMP1A):c.28-14C>T | single nucleotide variant | CHMP1A-related disorder [RCV003953653]|not provided [RCV001311465] | Chr16:89651660 [GRCh38] Chr16:89718068 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.*93G>A | single nucleotide variant | Pontocerebellar hypoplasia type 8 [RCV001334082] | Chr16:89645973 [GRCh38] Chr16:89712381 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.28-168G>A | single nucleotide variant | not provided [RCV001581667] | Chr16:89651814 [GRCh38] Chr16:89718222 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.130T>A (p.Cys44Ser) | single nucleotide variant | Inborn genetic diseases [RCV002546293]|Pontocerebellar hypoplasia type 8 [RCV001328987]|not provided [RCV002546294] | Chr16:89649473 [GRCh38] Chr16:89715881 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.106-3C>T | single nucleotide variant | Pontocerebellar hypoplasia type 8 [RCV001328986] | Chr16:89649500 [GRCh38] Chr16:89715908 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.105+168GTTT[6] | microsatellite | not provided [RCV001714680] | Chr16:89651374..89651377 [GRCh38] Chr16:89717782..89717785 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.8-78A>T | single nucleotide variant | not provided [RCV001717298] | Chr16:89654001 [GRCh38] Chr16:89720409 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.105+255dup | duplication | not provided [RCV001665252] | Chr16:89651313..89651314 [GRCh38] Chr16:89717721..89717722 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.253-234C>G | single nucleotide variant | not provided [RCV001608962] | Chr16:89647565 [GRCh38] Chr16:89713973 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.381+188G>A | single nucleotide variant | not provided [RCV001652721] | Chr16:89647015 [GRCh38] Chr16:89713423 [GRCh37] Chr16:16q24.3 |
benign |
NC_000016.9:g.89645037_89810099del | deletion | Fanconi anemia complementation group A [RCV001256631] | Chr16:89645037..89810099 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NC_000016.9:g.(?_87636753)_(90109753_?)dup | duplication | Fanconi anemia [RCV004579589]|Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative [RCV003119313]|Primary ciliary dyskinesia 33 [RCV003109228] | Chr16:87636753..90109753 [GRCh37] Chr16:16q24.2-24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.197C>T (p.Ala66Val) | single nucleotide variant | not provided [RCV001770780] | Chr16:89649406 [GRCh38] Chr16:89715814 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.81G>C (p.Lys27Asn) | single nucleotide variant | not provided [RCV001763759] | Chr16:89651593 [GRCh38] Chr16:89718001 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.552G>C (p.Glu184Asp) | single nucleotide variant | not provided [RCV001765824] | Chr16:89646544 [GRCh38] Chr16:89712952 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 | copy number gain | not provided [RCV001795551] | Chr16:80386595..90163348 [GRCh37] Chr16:16q23.2-24.3 |
pathogenic |
NM_002768.5(CHMP1A):c.570-1G>C | single nucleotide variant | not specified [RCV001806820] | Chr16:89646088 [GRCh38] Chr16:89712496 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.3(chr16:89337891-90155062)x3 | copy number gain | not provided [RCV001827759] | Chr16:89337891..90155062 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.136C>T (p.Arg46Cys) | single nucleotide variant | not provided [RCV001894441] | Chr16:89649467 [GRCh38] Chr16:89715875 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.190C>T (p.Arg64Trp) | single nucleotide variant | Inborn genetic diseases [RCV002545405]|not provided [RCV002039674] | Chr16:89649413 [GRCh38] Chr16:89715821 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.3(chr16:88985997-89962916) | copy number gain | not specified [RCV002052564] | Chr16:88985997..89962916 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3 | copy number gain | not provided [RCV001829158] | Chr16:88000389..90155062 [GRCh37] Chr16:16q24.2-24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.106-10C>T | single nucleotide variant | not provided [RCV001943136] | Chr16:89649507 [GRCh38] Chr16:89715915 [GRCh37] Chr16:16q24.3 |
likely benign|uncertain significance |
NC_000016.9:g.(?_87636753)_(89723996_?)dup | duplication | Mucopolysaccharidosis, MPS-IV-A [RCV001939908] | Chr16:87636753..89723996 [GRCh37] Chr16:16q24.2-24.3 |
uncertain significance |
NC_000016.9:g.(?_89712474)_(89720351_?)dup | duplication | not provided [RCV001918004] | Chr16:89712474..89720351 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.19del (p.Gln7fs) | deletion | not provided [RCV001898414] | Chr16:89653912 [GRCh38] Chr16:89720320 [GRCh37] Chr16:16q24.3 |
pathogenic |
NM_002768.5(CHMP1A):c.154G>A (p.Ala52Thr) | single nucleotide variant | not provided [RCV002034034] | Chr16:89649449 [GRCh38] Chr16:89715857 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.497G>T (p.Ser166Ile) | single nucleotide variant | not provided [RCV001881266] | Chr16:89646599 [GRCh38] Chr16:89713007 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.382-9T>C | single nucleotide variant | not provided [RCV002167784] | Chr16:89646723 [GRCh38] Chr16:89713131 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.28-6G>A | single nucleotide variant | CHMP1A-related disorder [RCV003970894]|not provided [RCV002109824] | Chr16:89651652 [GRCh38] Chr16:89718060 [GRCh37] Chr16:16q24.3 |
likely benign |
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 | copy number gain | not provided [RCV002221458] | Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
NM_002768.5(CHMP1A):c.384G>A (p.Val128=) | single nucleotide variant | not provided [RCV002118554] | Chr16:89646712 [GRCh38] Chr16:89713120 [GRCh37] Chr16:16q24.3 |
likely benign |
NC_000016.9:g.(?_89167090)_(89883023_?)dup | duplication | KBG syndrome [RCV003116641] | Chr16:89167090..89883023 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NC_000016.9:g.(?_89334886)_(89723996_?)dup | duplication | not provided [RCV003113113] | Chr16:89334886..89723996 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NC_000016.9:g.(?_89371594)_(89730828_?)dup | duplication | KBG syndrome [RCV003116637] | Chr16:89371594..89730828 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NC_000016.9:g.(?_89712474)_(89866066_?)del | deletion | Fanconi anemia [RCV003119371] | Chr16:89712474..89866066 [GRCh37] Chr16:16q24.3 |
pathogenic |
NC_000016.9:g.(?_89556653)_(89851392_?)dup | duplication | Fanconi anemia [RCV003119374] | Chr16:89556653..89851392 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NC_000016.9:g.(?_89611036)_(90106937_?)dup | duplication | Fanconi anemia [RCV003119385] | Chr16:89611036..90106937 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.252+6T>C | single nucleotide variant | not specified [RCV004783202] | Chr16:89649345 [GRCh38] Chr16:89715753 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.432G>A (p.Glu144=) | single nucleotide variant | Inborn genetic diseases [RCV003276439] | Chr16:89646664 [GRCh38] Chr16:89713072 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.34del (p.Ala12fs) | deletion | Pontocerebellar hypoplasia type 8 [RCV004789841] | Chr16:89651640 [GRCh38] Chr16:89718048 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_002768.5(CHMP1A):c.28-2A>G | single nucleotide variant | Pontocerebellar hypoplasia type 8 [RCV003148450] | Chr16:89651648 [GRCh38] Chr16:89718056 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 | copy number gain | Syndromic anorectal malformation [RCV002286607] | Chr16:71641395..90161959 [GRCh37] Chr16:16q22.2-24.3 |
likely pathogenic |
GRCh37/hg19 16q24.3(chr16:89662422-89895938)x1 | copy number loss | not provided [RCV002472747] | Chr16:89662422..89895938 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.327C>G (p.Ser109=) | single nucleotide variant | Inborn genetic diseases [RCV002840314] | Chr16:89647257 [GRCh38] Chr16:89713665 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.175G>A (p.Gly59Ser) | single nucleotide variant | not provided [RCV003074158] | Chr16:89649428 [GRCh38] Chr16:89715836 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.569+20C>T | single nucleotide variant | not provided [RCV002616968] | Chr16:89646507 [GRCh38] Chr16:89712915 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.106-17T>C | single nucleotide variant | not provided [RCV002613460] | Chr16:89649514 [GRCh38] Chr16:89715922 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.587A>G (p.Asn196Ser) | single nucleotide variant | Inborn genetic diseases [RCV002752616] | Chr16:89646070 [GRCh38] Chr16:89712478 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.8-5T>C | single nucleotide variant | not provided [RCV002815382] | Chr16:89653928 [GRCh38] Chr16:89720336 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.378A>G (p.Thr126=) | single nucleotide variant | Inborn genetic diseases [RCV002905655]|not provided [RCV003561121] | Chr16:89647206 [GRCh38] Chr16:89713614 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.321G>A (p.Lys107=) | single nucleotide variant | Inborn genetic diseases [RCV002753979]|not provided [RCV003778629] | Chr16:89647263 [GRCh38] Chr16:89713671 [GRCh37] Chr16:16q24.3 |
likely benign|uncertain significance |
NM_002768.5(CHMP1A):c.253-14C>G | single nucleotide variant | not provided [RCV002740457] | Chr16:89647345 [GRCh38] Chr16:89713753 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.516C>T (p.Ala172=) | single nucleotide variant | not provided [RCV002639476] | Chr16:89646580 [GRCh38] Chr16:89712988 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.310G>A (p.Asp104Asn) | single nucleotide variant | Inborn genetic diseases [RCV002949802] | Chr16:89647274 [GRCh38] Chr16:89713682 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.262A>T (p.Asn88Tyr) | single nucleotide variant | Inborn genetic diseases [RCV002844511] | Chr16:89647322 [GRCh38] Chr16:89713730 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.370G>A (p.Val124Ile) | single nucleotide variant | not provided [RCV002639532] | Chr16:89647214 [GRCh38] Chr16:89713622 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.*10G>A | single nucleotide variant | Inborn genetic diseases [RCV002759925] | Chr16:89646056 [GRCh38] Chr16:89712464 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.570-17C>G | single nucleotide variant | not provided [RCV003021459] | Chr16:89646104 [GRCh38] Chr16:89712512 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.252+17_252+18insA | insertion | not provided [RCV003036696] | Chr16:89649333..89649334 [GRCh38] Chr16:89715741..89715742 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.111T>C (p.Leu37=) | single nucleotide variant | Inborn genetic diseases [RCV002978699] | Chr16:89649492 [GRCh38] Chr16:89715900 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.253-18C>T | single nucleotide variant | not provided [RCV002781302] | Chr16:89647349 [GRCh38] Chr16:89713757 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.297C>T (p.Ala99=) | single nucleotide variant | not provided [RCV003100452] | Chr16:89647287 [GRCh38] Chr16:89713695 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.404C>T (p.Ser135Leu) | single nucleotide variant | not provided [RCV002638364] | Chr16:89646692 [GRCh38] Chr16:89713100 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.106-12C>T | single nucleotide variant | not provided [RCV002573931] | Chr16:89649509 [GRCh38] Chr16:89715917 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.252+9T>G | single nucleotide variant | not provided [RCV002800871] | Chr16:89649342 [GRCh38] Chr16:89715750 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.489C>A (p.Asp163Glu) | single nucleotide variant | not provided [RCV002918167] | Chr16:89646607 [GRCh38] Chr16:89713015 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.32C>T (p.Thr11Met) | single nucleotide variant | Inborn genetic diseases [RCV002765282] | Chr16:89651642 [GRCh38] Chr16:89718050 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.462C>T (p.Ala154=) | single nucleotide variant | not provided [RCV002932218] | Chr16:89646634 [GRCh38] Chr16:89713042 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.423G>A (p.Thr141=) | single nucleotide variant | not provided [RCV003089603] | Chr16:89646673 [GRCh38] Chr16:89713081 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.488A>G (p.Asp163Gly) | single nucleotide variant | not provided [RCV002627525] | Chr16:89646608 [GRCh38] Chr16:89713016 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.105+8C>T | single nucleotide variant | not provided [RCV003086241] | Chr16:89651561 [GRCh38] Chr16:89717969 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.542G>A (p.Arg181His) | single nucleotide variant | not provided [RCV003087165] | Chr16:89646554 [GRCh38] Chr16:89712962 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.*9C>T | single nucleotide variant | Inborn genetic diseases [RCV002717665] | Chr16:89646057 [GRCh38] Chr16:89712465 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.522C>T (p.Ala174=) | single nucleotide variant | Inborn genetic diseases [RCV003294515]|not provided [RCV003088697] | Chr16:89646574 [GRCh38] Chr16:89712982 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.*109C>T | single nucleotide variant | Inborn genetic diseases [RCV002809485] | Chr16:89645957 [GRCh38] Chr16:89712365 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.28-11C>G | single nucleotide variant | not provided [RCV003045282] | Chr16:89651657 [GRCh38] Chr16:89718065 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.211G>A (p.Ala71Thr) | single nucleotide variant | not provided [RCV003047432] | Chr16:89649392 [GRCh38] Chr16:89715800 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.513C>T (p.Gly171=) | single nucleotide variant | not provided [RCV003045178] | Chr16:89646583 [GRCh38] Chr16:89712991 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.459C>T (p.Ile153=) | single nucleotide variant | Inborn genetic diseases [RCV004064439]|not provided [RCV002580041] | Chr16:89646637 [GRCh38] Chr16:89713045 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.514G>A (p.Ala172Thr) | single nucleotide variant | not provided [RCV002635761] | Chr16:89646582 [GRCh38] Chr16:89712990 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.577G>C (p.Ala193Pro) | single nucleotide variant | Inborn genetic diseases [RCV003205447] | Chr16:89646080 [GRCh38] Chr16:89712488 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.271C>T (p.Gln91Ter) | single nucleotide variant | Pontoneocerebellar hypoplasia [RCV003226733] | Chr16:89647313 [GRCh38] Chr16:89713721 [GRCh37] Chr16:16q24.3 |
likely pathogenic |
NM_002768.5(CHMP1A):c.*57C>T | single nucleotide variant | Inborn genetic diseases [RCV003263067] | Chr16:89646009 [GRCh38] Chr16:89712417 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.252+937G>A | single nucleotide variant | not provided [RCV003419531] | Chr16:89648414 [GRCh38] Chr16:89714822 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.51G>C (p.Lys17Asn) | single nucleotide variant | Inborn genetic diseases [RCV003383715] | Chr16:89651623 [GRCh38] Chr16:89718031 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.380C>T (p.Ser127Leu) | single nucleotide variant | Inborn genetic diseases [RCV003351159] | Chr16:89647204 [GRCh38] Chr16:89713612 [GRCh37] Chr16:16q24.3 |
likely benign |
GRCh37/hg19 16q24.3(chr16:89563707-89772750)x3 | copy number gain | not provided [RCV003485132] | Chr16:89563707..89772750 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.160C>T (p.Arg54Cys) | single nucleotide variant | Inborn genetic diseases [RCV004364826]|not specified [RCV003479590] | Chr16:89649443 [GRCh38] Chr16:89715851 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.*68C>G | single nucleotide variant | CHMP1A-related disorder [RCV003946554]|not provided [RCV003428007] | Chr16:89645998 [GRCh38] Chr16:89712406 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.202C>T (p.Arg68Cys) | single nucleotide variant | not specified [RCV003388488] | Chr16:89649401 [GRCh38] Chr16:89715809 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.252+923T>G | single nucleotide variant | not provided [RCV003428010] | Chr16:89648428 [GRCh38] Chr16:89714836 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.253-222G>A | single nucleotide variant | not provided [RCV003413058] | Chr16:89647553 [GRCh38] Chr16:89713961 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.106-11G>A | single nucleotide variant | not provided [RCV003413059] | Chr16:89649508 [GRCh38] Chr16:89715916 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.252+965T>G | single nucleotide variant | not provided [RCV003419530] | Chr16:89648386 [GRCh38] Chr16:89714794 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.253-249G>A | single nucleotide variant | not provided [RCV003428008] | Chr16:89647580 [GRCh38] Chr16:89713988 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.253-327G>A | single nucleotide variant | not provided [RCV003428009] | Chr16:89647658 [GRCh38] Chr16:89714066 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.345C>T (p.Phe115=) | single nucleotide variant | not provided [RCV003825552] | Chr16:89647239 [GRCh38] Chr16:89713647 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.286C>T (p.Leu96=) | single nucleotide variant | not provided [RCV003829945] | Chr16:89647298 [GRCh38] Chr16:89713706 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.285C>T (p.Ala95=) | single nucleotide variant | not provided [RCV003811214] | Chr16:89647299 [GRCh38] Chr16:89713707 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.381+17C>T | single nucleotide variant | not provided [RCV003665436] | Chr16:89647186 [GRCh38] Chr16:89713594 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.426G>A (p.Pro142=) | single nucleotide variant | not provided [RCV003813728] | Chr16:89646670 [GRCh38] Chr16:89713078 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.123T>C (p.Asn41=) | single nucleotide variant | not provided [RCV003671001] | Chr16:89649480 [GRCh38] Chr16:89715888 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.303C>T (p.Ser101=) | single nucleotide variant | not provided [RCV003679866] | Chr16:89647281 [GRCh38] Chr16:89713689 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.84G>A (p.Ala28=) | single nucleotide variant | not provided [RCV003542529] | Chr16:89651590 [GRCh38] Chr16:89717998 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.105+10T>G | single nucleotide variant | not provided [RCV003731851] | Chr16:89651559 [GRCh38] Chr16:89717967 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.219C>A (p.Ala73=) | single nucleotide variant | not provided [RCV003856950] | Chr16:89649384 [GRCh38] Chr16:89715792 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.106-12del | deletion | not provided [RCV003719152] | Chr16:89649509 [GRCh38] Chr16:89715917 [GRCh37] Chr16:16q24.3 |
benign |
NM_002768.5(CHMP1A):c.528C>T (p.Gly176=) | single nucleotide variant | not provided [RCV003867058] | Chr16:89646568 [GRCh38] Chr16:89712976 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.382-6C>T | single nucleotide variant | not provided [RCV003720083] | Chr16:89646720 [GRCh38] Chr16:89713128 [GRCh37] Chr16:16q24.3 |
likely benign |
GRCh37/hg19 16q24.3(chr16:89462287-89772750)x3 | copy number gain | not specified [RCV003987127] | Chr16:89462287..89772750 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q24.3(chr16:89692538-89740609)x1 | copy number loss | not specified [RCV003987197] | Chr16:89692538..89740609 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.333G>A (p.Val111=) | single nucleotide variant | not provided [RCV003734941] | Chr16:89647251 [GRCh38] Chr16:89713659 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.191G>A (p.Arg64Gln) | single nucleotide variant | not provided [RCV003847052] | Chr16:89649412 [GRCh38] Chr16:89715820 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.241A>T (p.Thr81Ser) | single nucleotide variant | Inborn genetic diseases [RCV004439297] | Chr16:89649362 [GRCh38] Chr16:89715770 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.366G>A (p.Leu122=) | single nucleotide variant | Inborn genetic diseases [RCV004439300] | Chr16:89647218 [GRCh38] Chr16:89713626 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.558G>A (p.Gln186=) | single nucleotide variant | Inborn genetic diseases [RCV004439302] | Chr16:89646538 [GRCh38] Chr16:89712946 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.304A>G (p.Thr102Ala) | single nucleotide variant | Inborn genetic diseases [RCV004439299] | Chr16:89647280 [GRCh38] Chr16:89713688 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.*6C>A | single nucleotide variant | Inborn genetic diseases [RCV004610381] | Chr16:89646060 [GRCh38] Chr16:89712468 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.150G>A (p.Glu50=) | single nucleotide variant | Inborn genetic diseases [RCV004610382] | Chr16:89649453 [GRCh38] Chr16:89715861 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.153C>T (p.Asn51=) | single nucleotide variant | Inborn genetic diseases [RCV004439293] | Chr16:89649450 [GRCh38] Chr16:89715858 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.260A>T (p.Lys87Met) | single nucleotide variant | Inborn genetic diseases [RCV004439298] | Chr16:89647324 [GRCh38] Chr16:89713732 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.*34G>T | single nucleotide variant | Inborn genetic diseases [RCV004439304] | Chr16:89646032 [GRCh38] Chr16:89712440 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.*121G>C | single nucleotide variant | CHMP1A-related disorder [RCV003916844] | Chr16:89645945 [GRCh38] Chr16:89712353 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.201C>T (p.Ser67=) | single nucleotide variant | Inborn genetic diseases [RCV004439295] | Chr16:89649402 [GRCh38] Chr16:89715810 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.161G>A (p.Arg54His) | single nucleotide variant | Inborn genetic diseases [RCV004439294] | Chr16:89649442 [GRCh38] Chr16:89715850 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.203G>A (p.Arg68His) | single nucleotide variant | Inborn genetic diseases [RCV004439296] | Chr16:89649400 [GRCh38] Chr16:89715808 [GRCh37] Chr16:16q24.3 |
likely benign |
NM_002768.5(CHMP1A):c.65C>T (p.Ala22Val) | single nucleotide variant | Pontocerebellar hypoplasia type 8 [RCV003990825] | Chr16:89651609 [GRCh38] Chr16:89718017 [GRCh37] Chr16:16q24.3 |
uncertain significance |
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3 | copy number gain | not provided [RCV004577473] | Chr16:82865402..90163542 [GRCh37] Chr16:16q23.3-24.3 |
pathogenic |
NC_000016.9:g.(?_88717344)_(90106937_?)dup | duplication | KBG syndrome [RCV004581568] | Chr16:88717344..90106937 [GRCh37] Chr16:16q24.3 |
uncertain significance |
NM_002768.5(CHMP1A):c.381+6T>A | single nucleotide variant | not specified [RCV004691080] | Chr16:89647197 [GRCh38] Chr16:89713605 [GRCh37] Chr16:16q24.3 |
uncertain significance |
The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
RH17441 |
|
||||||||||||||||||||||||||||||||||||||||
SHGC-61043 |
|
||||||||||||||||||||||||||||||||||||||||
RH66573 |
|
adipose tissue
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
entire extraembryonic component
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
pharyngeal arch
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2439 | 2788 | 2253 | 4974 | 1726 | 2351 | 6 | 624 | 1951 | 465 | 2270 | 7306 | 6472 | 53 | 3734 | 1 | 852 | 1744 | 1617 | 175 | 1 |
RefSeq Transcripts | NG_033005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001083314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_002768 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NR_046418 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_011523098 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047434195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054380435 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054380436 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC010538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AF281063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI356110 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI362697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK302055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC007527 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC010000 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC132711 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC132713 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG480548 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BI826757 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT006841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX363674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CF131483 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471184 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
D38554 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY008690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY089525 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U58048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000397901 ⟹ ENSP00000380998 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000535997 ⟹ ENSP00000442120 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000547614 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000547687 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000548650 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000549139 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000549328 ⟹ ENSP00000447899 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000550102 ⟹ ENSP00000449243 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000550872 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000551981 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000674799 ⟹ ENSP00000502267 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675016 ⟹ ENSP00000502282 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675076 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675161 ⟹ ENSP00000501615 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675309 ⟹ ENSP00000502291 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675536 ⟹ ENSP00000501759 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675760 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675778 ⟹ ENSP00000502825 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675909 ⟹ ENSP00000502022 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675942 ⟹ ENSP00000502409 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000675952 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676118 ⟹ ENSP00000501619 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676275 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676342 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676355 ⟹ ENSP00000502147 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000676402 ⟹ ENSP00000501794 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001083314 ⟹ NP_001076783 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NM_002768 ⟹ NP_002759 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | NR_046418 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_011523098 ⟹ XP_011521400 | ||||||||
Type: | CODING | ||||||||
Position: |
|
||||||||
Sequence: |
RefSeq Acc Id: | XM_047434195 ⟹ XP_047290151 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054380435 ⟹ XP_054236410 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054380436 ⟹ XP_054236411 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_001076783 | (Get FASTA) | NCBI Sequence Viewer |
NP_002759 | (Get FASTA) | NCBI Sequence Viewer | |
XP_011521400 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047290151 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054236410 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054236411 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAC50775 | (Get FASTA) | NCBI Sequence Viewer |
AAG01448 | (Get FASTA) | NCBI Sequence Viewer | |
AAH10000 | (Get FASTA) | NCBI Sequence Viewer | |
AAI32712 | (Get FASTA) | NCBI Sequence Viewer | |
AAI32714 | (Get FASTA) | NCBI Sequence Viewer | |
AAP35487 | (Get FASTA) | NCBI Sequence Viewer | |
BAA07557 | (Get FASTA) | NCBI Sequence Viewer | |
BAG63445 | (Get FASTA) | NCBI Sequence Viewer | |
EAW66715 | (Get FASTA) | NCBI Sequence Viewer | |
EAW66716 | (Get FASTA) | NCBI Sequence Viewer | |
EAW66717 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000380998 | ||
ENSP00000380998.3 | |||
ENSP00000442120 | |||
ENSP00000442120.3 | |||
ENSP00000447899.1 | |||
ENSP00000449243.1 | |||
ENSP00000501615.1 | |||
ENSP00000501619.1 | |||
ENSP00000501759.1 | |||
ENSP00000501794 | |||
ENSP00000501794.1 | |||
ENSP00000502022.1 | |||
ENSP00000502147.1 | |||
ENSP00000502267 | |||
ENSP00000502267.1 | |||
ENSP00000502282.1 | |||
ENSP00000502291.1 | |||
ENSP00000502409.1 | |||
ENSP00000502825.1 | |||
GenBank Protein | Q9HD42 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001076783 ⟸ NM_001083314 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A0A6Q8PFF8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_002759 ⟸ NM_002768 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9HD42 (UniProtKB/Swiss-Prot), Q15779 (UniProtKB/Swiss-Prot), Q14468 (UniProtKB/Swiss-Prot), A2RU09 (UniProtKB/Swiss-Prot), Q96G31 (UniProtKB/Swiss-Prot), A0A6Q8PG85 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_011521400 ⟸ XM_011523098 |
- Peptide Label: | isoform X1 |
- Sequence: |
Ensembl Acc Id: | ENSP00000442120 ⟸ ENST00000535997 |
Ensembl Acc Id: | ENSP00000447899 ⟸ ENST00000549328 |
Ensembl Acc Id: | ENSP00000449243 ⟸ ENST00000550102 |
Ensembl Acc Id: | ENSP00000380998 ⟸ ENST00000397901 |
Ensembl Acc Id: | ENSP00000502267 ⟸ ENST00000674799 |
Ensembl Acc Id: | ENSP00000502825 ⟸ ENST00000675778 |
Ensembl Acc Id: | ENSP00000501759 ⟸ ENST00000675536 |
Ensembl Acc Id: | ENSP00000502409 ⟸ ENST00000675942 |
Ensembl Acc Id: | ENSP00000502022 ⟸ ENST00000675909 |
Ensembl Acc Id: | ENSP00000502291 ⟸ ENST00000675309 |
Ensembl Acc Id: | ENSP00000501615 ⟸ ENST00000675161 |
Ensembl Acc Id: | ENSP00000502282 ⟸ ENST00000675016 |
Ensembl Acc Id: | ENSP00000501619 ⟸ ENST00000676118 |
Ensembl Acc Id: | ENSP00000501794 ⟸ ENST00000676402 |
Ensembl Acc Id: | ENSP00000502147 ⟸ ENST00000676355 |
RefSeq Acc Id: | XP_047290151 ⟸ XM_047434195 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A6Q8PFX8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054236411 ⟸ XM_054380436 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A6Q8PFX8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054236410 ⟸ XM_054380435 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9HD42-F1-model_v2 | AlphaFold | Q9HD42 | 1-196 | view protein structure |
RGD ID: | 6792908 | ||||||||
Promoter ID: | HG_KWN:24528 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_001083314, NM_002768, OTTHUMT00000269924, UC002FNX.2, UC002FNY.1 | ||||||||
Position: |
|
RGD ID: | 7233173 | ||||||||
Promoter ID: | EPDNEW_H22332 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | CHMP1A_2 | ||||||||
Description: | charged multivesicular body protein 1A | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22333 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7233175 | ||||||||
Promoter ID: | EPDNEW_H22333 | ||||||||
Type: | initiation region | ||||||||
Name: | CHMP1A_1 | ||||||||
Description: | charged multivesicular body protein 1A | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22332 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:8740 | AgrOrtholog |
COSMIC | CHMP1A | COSMIC |
Ensembl Genes | ENSG00000131165 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000397901 | ENTREZGENE |
ENST00000397901.8 | UniProtKB/Swiss-Prot | |
ENST00000535997 | ENTREZGENE | |
ENST00000535997.7 | UniProtKB/TrEMBL | |
ENST00000549328 | ENTREZGENE | |
ENST00000549328.2 | UniProtKB/TrEMBL | |
ENST00000550102.5 | UniProtKB/TrEMBL | |
ENST00000674799 | ENTREZGENE | |
ENST00000674799.1 | UniProtKB/TrEMBL | |
ENST00000675016.1 | UniProtKB/TrEMBL | |
ENST00000675161.1 | UniProtKB/TrEMBL | |
ENST00000675309.1 | UniProtKB/TrEMBL | |
ENST00000675536.1 | UniProtKB/TrEMBL | |
ENST00000675778.1 | UniProtKB/TrEMBL | |
ENST00000675909.1 | UniProtKB/TrEMBL | |
ENST00000675942.1 | UniProtKB/TrEMBL | |
ENST00000676118.1 | UniProtKB/TrEMBL | |
ENST00000676355.1 | UniProtKB/TrEMBL | |
ENST00000676402 | ENTREZGENE | |
ENST00000676402.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 6.10.140.1230 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
6.10.250.440 | UniProtKB/TrEMBL | |
GTEx | ENSG00000131165 | GTEx |
HGNC ID | HGNC:8740 | ENTREZGENE |
Human Proteome Map | CHMP1A | Human Proteome Map |
InterPro | Snf7_fam | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
KEGG Report | hsa:5119 | UniProtKB/Swiss-Prot |
NCBI Gene | 5119 | ENTREZGENE |
OMIM | 164010 | OMIM |
PANTHER | PTHR10476 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Pfam | Snf7 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA33085 | PharmGKB |
PRINTS | PRICHEXTENSN | UniProtKB/TrEMBL |
UniProt | A0A6Q8PF26_HUMAN | UniProtKB/TrEMBL |
A0A6Q8PF35_HUMAN | UniProtKB/TrEMBL | |
A0A6Q8PFF8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A6Q8PFF9_HUMAN | UniProtKB/TrEMBL | |
A0A6Q8PFX8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A6Q8PG85 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A6Q8PGI9_HUMAN | UniProtKB/TrEMBL | |
A0A6Q8PGM8_HUMAN | UniProtKB/TrEMBL | |
A0A6Q8PGV2_HUMAN | UniProtKB/TrEMBL | |
A0A6Q8PHU0_HUMAN | UniProtKB/TrEMBL | |
A2RU09 | ENTREZGENE | |
CHM1A_HUMAN | UniProtKB/Swiss-Prot | |
F5H875_HUMAN | UniProtKB/TrEMBL | |
F8VUA2_HUMAN | UniProtKB/TrEMBL | |
F8VVT7_HUMAN | UniProtKB/TrEMBL | |
Q14468 | ENTREZGENE | |
Q15779 | ENTREZGENE | |
Q96G31 | ENTREZGENE | |
Q9HD42 | ENTREZGENE | |
UniProt Secondary | A2RU09 | UniProtKB/Swiss-Prot |
Q14468 | UniProtKB/Swiss-Prot | |
Q15779 | UniProtKB/Swiss-Prot | |
Q96G31 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2011-11-22 | CHMP1A | charged multivesicular body protein 1A | CHMP1A | chromatin modifying protein 1A | Symbol and/or name change | 5135510 | APPROVED |