![]()
Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ACBD6 | Human | intellectual disability | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21937992 | |
|
![]()
Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ACBD6 | Human | intellectual disability | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:21937992 | |
|
|
|
|
|
|
# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
3. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:8889549 | PMID:15489334 | PMID:16710414 | PMID:18029348 | PMID:18268358 | PMID:20098747 | PMID:20379614 | PMID:21832049 | PMID:21873635 | PMID:25277244 | PMID:26290611 | PMID:26621918 |
PMID:29642183 | PMID:30642881 | PMID:32108178 | PMID:32296183 | PMID:33961781 | PMID:34349018 | PMID:34917906 | PMID:35831314 | PMID:36551154 | PMID:37951597 |
ACBD6 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acbd6 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acbd6 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acbd6 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ACBD6 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ACBD6 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acbd6 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ACBD6 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
ACBD6 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acbd6 (Heterocephalus glaber - naked mole-rat) |
|
.
Variants in ACBD6
122 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1 | copy number loss | See cases [RCV000051221] | Chr1:175035040..186042595 [GRCh38] Chr1:175004176..186011727 [GRCh37] Chr1:173270799..184278350 [NCBI36] Chr1:1q25.1-31.1 |
pathogenic |
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 | copy number loss | See cases [RCV000053948] | Chr1:179032905..199724897 [GRCh38] Chr1:179002040..199694025 [GRCh37] Chr1:177268663..197960648 [NCBI36] Chr1:1q25.2-32.1 |
pathogenic |
NM_033343.4(LHX4):c.837C>T (p.Asp279=) | single nucleotide variant | Combined Pituitary Hormone Deficiency, Dominant [RCV000362800]|not provided [RCV000926189] | Chr1:180274243 [GRCh38] Chr1:180243378 [GRCh37] Chr1:1q25.2 |
likely benign|uncertain significance |
NM_033343.4(LHX4):c.628G>C (p.Ala210Pro) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007936] | Chr1:180271856 [GRCh38] Chr1:180240991 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_033343.4(LHX4):c.569T>G (p.Leu190Arg) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007938] | Chr1:180271497 [GRCh38] Chr1:180240632 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_033343.4(LHX4):c.1162C>A (p.Pro388Thr) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007939] | Chr1:180274568 [GRCh38] Chr1:180243703 [GRCh37] Chr1:1q25.2 |
pathogenic |
GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1 | copy number loss | See cases [RCV000134144] | Chr1:176595962..196301688 [GRCh38] Chr1:176565098..196270818 [GRCh37] Chr1:174831721..194537441 [NCBI36] Chr1:1q25.2-31.3 |
pathogenic |
GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3 | copy number gain | See cases [RCV000134876] | Chr1:171039975..186875957 [GRCh38] Chr1:171009116..186845089 [GRCh37] Chr1:169275740..185111712 [NCBI36] Chr1:1q24.3-31.1 |
pathogenic |
GRCh38/hg38 1q25.2-25.3(chr1:180210306-180309409)x3 | copy number gain | See cases [RCV000134930] | Chr1:180210306..180309409 [GRCh38] Chr1:180179441..180278544 [GRCh37] Chr1:178446064..178545167 [NCBI36] Chr1:1q25.2-25.3 |
likely benign |
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1 | copy number loss | See cases [RCV000142369] | Chr1:170929720..191065409 [GRCh38] Chr1:170898861..191034539 [GRCh37] Chr1:169165485..189301162 [NCBI36] Chr1:1q24.3-31.2 |
pathogenic |
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 | copy number loss | See cases [RCV000143688] | Chr1:170036068..187555148 [GRCh38] Chr1:170005209..187524280 [GRCh37] Chr1:168271833..185790903 [NCBI36] Chr1:1q24.2-31.1 |
pathogenic |
NM_033343.4(LHX4):c.*17C>A | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000263250]|not provided [RCV004713543] | Chr1:180274596 [GRCh38] Chr1:180243731 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_033343.4(LHX4):c.*91C>T | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000259778] | Chr1:180274670 [GRCh38] Chr1:180243805 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.775C>G (p.Arg259Gly) | single nucleotide variant | Inborn genetic diseases [RCV004984785]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000404698] | Chr1:180272003 [GRCh38] Chr1:180241138 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.452-5T>C | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000301831]|not provided [RCV001610798] | Chr1:180271375 [GRCh38] Chr1:180240510 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
GRCh37/hg19 1q25.2(chr1:180216801-180298307)x3 | copy number gain | See cases [RCV000240107] | Chr1:180216801..180298307 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.924T>C (p.Tyr308=) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000277583]|not provided [RCV000889282] | Chr1:180274330 [GRCh38] Chr1:180243465 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_033343.4(LHX4):c.774C>T (p.Phe258=) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000365899] | Chr1:180272002 [GRCh38] Chr1:180241137 [GRCh37] Chr1:1q25.2 |
likely benign|uncertain significance |
GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1 | copy number loss | See cases [RCV000239775] | Chr1:172742952..181814496 [GRCh37] Chr1:1q24.3-25.3 |
pathogenic |
NM_033343.4(LHX4):c.998C>T (p.Thr333Met) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000368558] | Chr1:180274404 [GRCh38] Chr1:180243539 [GRCh37] Chr1:1q25.2 |
uncertain significance |
GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623) | copy number gain | not provided [RCV000767621] | Chr1:169423492..180367623 [GRCh37] Chr1:1q24.2-25.3 |
pathogenic |
NM_033343.4(LHX4):c.452-2A>C | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000169664] | Chr1:180271378 [GRCh38] Chr1:180240513 [GRCh37] Chr1:1q25.2 |
pathogenic |
NM_033343.4(LHX4):c.*130C>T | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000284392] | Chr1:180274709 [GRCh38] Chr1:180243844 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_033343.4(LHX4):c.983A>G (p.Asn328Ser) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000612505]|not provided [RCV002058380]|not specified [RCV000242291] | Chr1:180274389 [GRCh38] Chr1:180243524 [GRCh37] Chr1:1q25.2 |
benign |
NM_033343.4(LHX4):c.778+14G>T | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000308148]|not provided [RCV001668596]|not specified [RCV000249713] | Chr1:180272020 [GRCh38] Chr1:180241155 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_033343.4(LHX4):c.*119T>C | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000378688] | Chr1:180274698 [GRCh38] Chr1:180243833 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_033343.4(LHX4):c.*26C>T | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000318378]|not provided [RCV004710736] | Chr1:180274605 [GRCh38] Chr1:180243740 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_033343.4(LHX4):c.*445G>T | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000289883] | Chr1:180275024 [GRCh38] Chr1:180244159 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_033343.4(LHX4):c.*286G>C | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000339394] | Chr1:180274865 [GRCh38] Chr1:180244000 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_033343.4(LHX4):c.*289G>A | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000384254] | Chr1:180274868 [GRCh38] Chr1:180244003 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.*97T>G | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000324066] | Chr1:180274676 [GRCh38] Chr1:180243811 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_033343.4(LHX4):c.*28C>A | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000373127] | Chr1:180274607 [GRCh38] Chr1:180243742 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.606+4A>G | single nucleotide variant | not provided [RCV000579292] | Chr1:180271538 [GRCh38] Chr1:180240673 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.784C>T (p.Gln262Ter) | single nucleotide variant | not provided [RCV000521681] | Chr1:180274190 [GRCh38] Chr1:180243325 [GRCh37] Chr1:1q25.2 |
likely pathogenic |
NM_033343.4(LHX4):c.740A>T (p.Glu247Val) | single nucleotide variant | Inborn genetic diseases [RCV004024647]|Pituitary hormone deficiency, combined, 1 [RCV000582035]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003129930] | Chr1:180271968 [GRCh38] Chr1:180241103 [GRCh37] Chr1:1q25.2 |
uncertain significance |
GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1 | copy number loss | See cases [RCV000447098] | Chr1:161676893..184071723 [GRCh37] Chr1:1q23.3-25.3 |
pathogenic |
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)x1 | copy number loss | See cases [RCV000447593] | Chr1:169873155..181823980 [GRCh37] Chr1:1q24.2-25.3 |
pathogenic |
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 | copy number loss | See cases [RCV000445748] | Chr1:179413479..201764737 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
NM_033343.4(LHX4):c.1066G>A (p.Ala356Thr) | single nucleotide variant | not provided [RCV000429837] | Chr1:180274472 [GRCh38] Chr1:180243607 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.1110C>G (p.Gly370=) | single nucleotide variant | not specified [RCV000433246] | Chr1:180274516 [GRCh38] Chr1:180243651 [GRCh37] Chr1:1q25.2 |
likely benign |
GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1 | copy number loss | See cases [RCV000448646] | Chr1:179564752..183850820 [GRCh37] Chr1:1q25.2-25.3 |
pathogenic |
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 | copy number loss | See cases [RCV000448809] | Chr1:179073386..200192265 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
GRCh37/hg19 1q25.2-25.3(chr1:178806664-181082264) | copy number loss | Abnormal esophagus morphology [RCV000416849] | Chr1:178806664..181082264 [GRCh37] Chr1:1q25.2-25.3 |
likely benign |
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)x1 | copy number loss | See cases [RCV000448686] | Chr1:171990029..195086758 [GRCh37] Chr1:1q24.3-31.3 |
pathogenic |
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 | copy number loss | See cases [RCV000512128] | Chr1:179011314..199022759 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 | copy number gain | See cases [RCV000510383] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_033343.4(LHX4):c.1052C>T (p.Thr351Met) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000509129]|not provided [RCV002524942] | Chr1:180274458 [GRCh38] Chr1:180243593 [GRCh37] Chr1:1q25.2 |
uncertain significance|not provided |
GRCh37/hg19 1q25.2-25.3(chr1:180171253-180889590)x3 | copy number gain | See cases [RCV000511110] | Chr1:180171253..180889590 [GRCh37] Chr1:1q25.2-25.3 |
uncertain significance |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) | copy number gain | See cases [RCV000510926] | Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3 | copy number gain | See cases [RCV000512520] | Chr1:173138799..185129406 [GRCh37] Chr1:1q25.1-25.3 |
likely pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 | copy number gain | not provided [RCV000736295] | Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 | copy number gain | not provided [RCV000736305] | Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_033343.4(LHX4):c.607-1G>C | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007935] | Chr1:180271834 [GRCh38] Chr1:180240969 [GRCh37] Chr1:1q25.2 |
pathogenic |
GRCh37/hg19 1q25.1-31.1(chr1:173131908-187406532)x1 | copy number loss | not provided [RCV000736735] | Chr1:173131908..187406532 [GRCh37] Chr1:1q25.1-31.1 |
pathogenic |
NM_033343.4(LHX4):c.1053G>A (p.Thr351=) | single nucleotide variant | not provided [RCV000914430] | Chr1:180274459 [GRCh38] Chr1:180243594 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_032360.4(ACBD6):c.574-2A>G | single nucleotide variant | Neurodevelopmental disorder with progressive movement abnormalities [RCV004577538]|not provided [RCV000994201] | Chr1:180397607 [GRCh38] Chr1:180366742 [GRCh37] Chr1:1q25.3 |
pathogenic|uncertain significance |
NM_033343.4(LHX4):c.849A>C (p.Gly283=) | single nucleotide variant | LHX4-related disorder [RCV003928695]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001096369]|not provided [RCV002067738] | Chr1:180274255 [GRCh38] Chr1:180243390 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_033343.4(LHX4):c.1061C>T (p.Ala354Val) | single nucleotide variant | Inborn genetic diseases [RCV003268965] | Chr1:180274467 [GRCh38] Chr1:180243602 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.608T>G (p.Val203Gly) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000986467] | Chr1:180271836 [GRCh38] Chr1:180240971 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_032360.4(ACBD6):c.744T>G (p.Gly248=) | single nucleotide variant | not provided [RCV000971848] | Chr1:180288468 [GRCh38] Chr1:180257603 [GRCh37] Chr1:1q25.2 |
benign |
NM_033343.4(LHX4):c.970G>A (p.Ala324Thr) | single nucleotide variant | not provided [RCV000920872] | Chr1:180274376 [GRCh38] Chr1:180243511 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_033343.4(LHX4):c.690C>T (p.Ser230=) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002495412]|not provided [RCV000894416] | Chr1:180271918 [GRCh38] Chr1:180241053 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_032360.4(ACBD6):c.96T>C (p.His32=) | single nucleotide variant | not provided [RCV000900464] | Chr1:180502171 [GRCh38] Chr1:180471306 [GRCh37] Chr1:1q25.3 |
benign |
NM_033343.4(LHX4):c.942A>C (p.Pro314=) | single nucleotide variant | not provided [RCV000925886] | Chr1:180274348 [GRCh38] Chr1:180243483 [GRCh37] Chr1:1q25.2 |
likely benign |
NC_000001.10:g.172652343_183538289del10885947 | deletion | 1q24q25 microdeletion syndrome [RCV000785662] | Chr1:172652343..183538289 [GRCh37] Chr1:1q24.3-25.3 |
pathogenic |
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098111]|not provided [RCV002554918]|not specified [RCV002249686] | Chr1:180274571 [GRCh38] Chr1:180243706 [GRCh37] Chr1:1q25.2 |
benign |
NM_033343.4(LHX4):c.1017C>G (p.Gly339=) | single nucleotide variant | not provided [RCV000942943] | Chr1:180274423 [GRCh38] Chr1:180243558 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_033343.4(LHX4):c.*221G>T | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001099895] | Chr1:180274800 [GRCh38] Chr1:180243935 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.704G>A (p.Arg235Gln) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000986468]|not provided [RCV002550597] | Chr1:180271932 [GRCh38] Chr1:180241067 [GRCh37] Chr1:1q25.2 |
likely benign|uncertain significance |
NM_033343.4(LHX4):c.776G>A (p.Arg259Gln) | single nucleotide variant | Inborn genetic diseases [RCV002549668]|LHX4-related disorder [RCV003411927]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000986469] | Chr1:180272004 [GRCh38] Chr1:180241139 [GRCh37] Chr1:1q25.2 |
likely benign|uncertain significance |
NM_033343.4(LHX4):c.969C>T (p.His323=) | single nucleotide variant | not provided [RCV000922747] | Chr1:180274375 [GRCh38] Chr1:180243510 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_033343.4(LHX4):c.846C>A (p.Gly282=) | single nucleotide variant | not provided [RCV000927068] | Chr1:180274252 [GRCh38] Chr1:180243387 [GRCh37] Chr1:1q25.2 |
likely benign |
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 | copy number loss | not provided [RCV001005157] | Chr1:177551193..199599056 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
NM_033343.4(LHX4):c.602T>C (p.Val201Ala) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001253228] | Chr1:180271530 [GRCh38] Chr1:180240665 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.*8T>C | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098112] | Chr1:180274587 [GRCh38] Chr1:180243722 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.*280T>C | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001101900] | Chr1:180274859 [GRCh38] Chr1:180243994 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.*154A>G | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001099894] | Chr1:180274733 [GRCh38] Chr1:180243868 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.464C>T (p.Ala155Val) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001591667] | Chr1:180271392 [GRCh38] Chr1:180240527 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.456C>G (p.Asp152Glu) | single nucleotide variant | not provided [RCV001596889] | Chr1:180271384 [GRCh38] Chr1:180240519 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.486C>A (p.Thr162=) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001096368] | Chr1:180271414 [GRCh38] Chr1:180240549 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.*17C>T | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098113] | Chr1:180274596 [GRCh38] Chr1:180243731 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.*460G>C | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001101901] | Chr1:180275039 [GRCh38] Chr1:180244174 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.1007G>A (p.Ser336Asn) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098109] | Chr1:180274413 [GRCh38] Chr1:180243548 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.1160A>C (p.His387Pro) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098110]|not provided [RCV002069655] | Chr1:180274566 [GRCh38] Chr1:180243701 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 | copy number gain | not provided [RCV001258487] | Chr1:173162501..182702252 [GRCh37] Chr1:1q25.1-25.3 |
pathogenic |
NC_000001.10:g.(?_130980840)_(248900000_?)dup | duplication | Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] | Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44 |
uncertain significance |
NM_033343.4(LHX4):c.724_726del (p.Lys242del) | deletion | not provided [RCV001357984]|not specified [RCV002246335] | Chr1:180271950..180271952 [GRCh38] Chr1:180241085..180241087 [GRCh37] Chr1:1q25.2 |
benign|likely benign|uncertain significance |
NM_033343.4(LHX4):c.606+83C>T | single nucleotide variant | not provided [RCV001675494] | Chr1:180271617 [GRCh38] Chr1:180240752 [GRCh37] Chr1:1q25.2 |
benign |
NM_033343.4(LHX4):c.1022T>C (p.Ile341Thr) | single nucleotide variant | Inborn genetic diseases [RCV003101316]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002244256] | Chr1:180274428 [GRCh38] Chr1:180243563 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.656C>T (p.Ala219Val) | single nucleotide variant | not specified [RCV004783498] | Chr1:180271884 [GRCh38] Chr1:180241019 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.652G>A (p.Asp218Asn) | single nucleotide variant | not provided [RCV001763298] | Chr1:180271880 [GRCh38] Chr1:180241015 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.1071_1073del (p.Gly358del) | deletion | not provided [RCV001774347] | Chr1:180274475..180274477 [GRCh38] Chr1:180243610..180243612 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.360dup (p.Leu121fs) | duplication | Intellectual disability [RCV001810074]|Neurodevelopmental disorder with progressive movement abnormalities [RCV004577550] | Chr1:180492292..180492293 [GRCh38] Chr1:180461427..180461428 [GRCh37] Chr1:1q25.3 |
pathogenic |
GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1 | copy number loss | not provided [RCV001836604] | Chr1:178522021..190322133 [GRCh37] Chr1:1q25.2-31.1 |
pathogenic |
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) | copy number loss | not specified [RCV002053769] | Chr1:179073386..200192265 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980) | copy number loss | not specified [RCV002053713] | Chr1:169873155..181823980 [GRCh37] Chr1:1q24.2-25.3 |
pathogenic |
GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758) | copy number loss | not specified [RCV002053736] | Chr1:171990029..195086758 [GRCh37] Chr1:1q24.3-31.3 |
pathogenic |
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) | copy number loss | not specified [RCV002053780] | Chr1:179413479..201764737 [GRCh37] Chr1:1q25.2-32.1 |
pathogenic |
NC_000001.10:g.(?_179520308)_(183559464_?)dup | duplication | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 [RCV002014062] | Chr1:179520308..183559464 [GRCh37] Chr1:1q25.2-25.3 |
uncertain significance |
NM_033343.4(LHX4):c.879C>T (p.Asp293=) | single nucleotide variant | LHX4-related disorder [RCV003958759]|not provided [RCV002124928]|not specified [RCV004782881] | Chr1:180274285 [GRCh38] Chr1:180243420 [GRCh37] Chr1:1q25.2 |
benign|likely benign |
NM_033343.4(LHX4):c.621C>G (p.Asn207Lys) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002251064] | Chr1:180271849 [GRCh38] Chr1:180240984 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.569T>C (p.Leu190Pro) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002283974] | Chr1:180271497 [GRCh38] Chr1:180240632 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.822T>A (p.Tyr274Ter) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002291151] | Chr1:180274228 [GRCh38] Chr1:180243363 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.624A>C (p.Arg208Ser) | single nucleotide variant | not provided [RCV003235941] | Chr1:180271852 [GRCh38] Chr1:180240987 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.727_732dup (p.Ser244_Ser245insGluSer) | duplication | not specified [RCV002282934] | Chr1:180271954..180271955 [GRCh38] Chr1:180241089..180241090 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.1161T>G (p.His387Gln) | single nucleotide variant | Inborn genetic diseases [RCV003263361] | Chr1:180274567 [GRCh38] Chr1:180243702 [GRCh37] Chr1:1q25.2 |
uncertain significance |
GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1 | copy number loss | not provided [RCV002473949] | Chr1:179727182..192260142 [GRCh37] Chr1:1q25.2-31.2 |
pathogenic |
NM_033343.4(LHX4):c.1006A>G (p.Ser336Gly) | single nucleotide variant | not provided [RCV002306164] | Chr1:180274412 [GRCh38] Chr1:180243547 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.611A>G (p.His204Arg) | single nucleotide variant | Inborn genetic diseases [RCV002859760] | Chr1:180397568 [GRCh38] Chr1:180366703 [GRCh37] Chr1:1q25.3 |
uncertain significance |
NM_032360.4(ACBD6):c.439A>G (p.Ser147Gly) | single nucleotide variant | Inborn genetic diseases [RCV002688352] | Chr1:180430208 [GRCh38] Chr1:180399343 [GRCh37] Chr1:1q25.3 |
uncertain significance |
NM_033343.4(LHX4):c.836A>G (p.Asp279Gly) | single nucleotide variant | Inborn genetic diseases [RCV002797566] | Chr1:180274242 [GRCh38] Chr1:180243377 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.236A>G (p.Asn79Ser) | single nucleotide variant | Inborn genetic diseases [RCV002737554] | Chr1:180495512 [GRCh38] Chr1:180464647 [GRCh37] Chr1:1q25.3 |
uncertain significance |
NM_032360.4(ACBD6):c.311A>C (p.Asp104Ala) | single nucleotide variant | Inborn genetic diseases [RCV003001298] | Chr1:180492342 [GRCh38] Chr1:180461477 [GRCh37] Chr1:1q25.3 |
uncertain significance |
NM_033343.4(LHX4):c.1116C>T (p.Pro372=) | single nucleotide variant | not provided [RCV002979237] | Chr1:180274522 [GRCh38] Chr1:180243657 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_033343.4(LHX4):c.898C>A (p.Gln300Lys) | single nucleotide variant | not provided [RCV002933252] | Chr1:180274304 [GRCh38] Chr1:180243439 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.661C>T (p.Arg221Trp) | single nucleotide variant | not provided [RCV002667897] | Chr1:180271889 [GRCh38] Chr1:180241024 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.667C>T (p.Arg223Cys) | single nucleotide variant | Inborn genetic diseases [RCV002670136] | Chr1:180271895 [GRCh38] Chr1:180241030 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.119G>C (p.Ser40Thr) | single nucleotide variant | Inborn genetic diseases [RCV002934603] | Chr1:180502148 [GRCh38] Chr1:180471283 [GRCh37] Chr1:1q25.3 |
uncertain significance |
NM_033343.4(LHX4):c.1158T>A (p.Asp386Glu) | single nucleotide variant | not provided [RCV002607893] | Chr1:180274564 [GRCh38] Chr1:180243699 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.1070G>A (p.Gly357Glu) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003131472] | Chr1:180274476 [GRCh38] Chr1:180243611 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.683A>G (p.Tyr228Cys) | single nucleotide variant | Inborn genetic diseases [RCV003183979] | Chr1:180271911 [GRCh38] Chr1:180241046 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.452A>C (p.His151Pro) | single nucleotide variant | Inborn genetic diseases [RCV003192113] | Chr1:180430195 [GRCh38] Chr1:180399330 [GRCh37] Chr1:1q25.3 |
uncertain significance |
NM_033343.4(LHX4):c.1087A>T (p.Ile363Phe) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003134054] | Chr1:180274493 [GRCh38] Chr1:180243628 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.482G>A (p.Arg161Gln) | single nucleotide variant | not provided [RCV003329927] | Chr1:180271410 [GRCh38] Chr1:180240545 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.46G>C (p.Gly16Arg) | single nucleotide variant | Inborn genetic diseases [RCV003367158] | Chr1:180502221 [GRCh38] Chr1:180471356 [GRCh37] Chr1:1q25.3 |
uncertain significance |
NM_033343.4(LHX4):c.805C>A (p.His269Asn) | single nucleotide variant | not provided [RCV003456677] | Chr1:180274211 [GRCh38] Chr1:180243346 [GRCh37] Chr1:1q25.2 |
uncertain significance |
GRCh37/hg19 1q25.2-25.3(chr1:180119141-180321486)x3 | copy number gain | not provided [RCV003484046] | Chr1:180119141..180321486 [GRCh37] Chr1:1q25.2-25.3 |
uncertain significance |
NM_033343.4(LHX4):c.743A>T (p.Asp248Val) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003388236] | Chr1:180271971 [GRCh38] Chr1:180241106 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.857T>C (p.Met286Thr) | single nucleotide variant | Inborn genetic diseases [RCV004985369]|not provided [RCV003456678] | Chr1:180274263 [GRCh38] Chr1:180243398 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.846C>T (p.Gly282=) | single nucleotide variant | not provided [RCV003546160] | Chr1:180274252 [GRCh38] Chr1:180243387 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_033343.4(LHX4):c.691G>A (p.Val231Ile) | single nucleotide variant | not provided [RCV003824499] | Chr1:180271919 [GRCh38] Chr1:180241054 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.953C>T (p.Ser318Leu) | single nucleotide variant | Inborn genetic diseases [RCV004369183]|not provided [RCV003561513] | Chr1:180274359 [GRCh38] Chr1:180243494 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.847G>A (p.Gly283Arg) | single nucleotide variant | Inborn genetic diseases [RCV004636768]|not provided [RCV003554138] | Chr1:180274253 [GRCh38] Chr1:180243388 [GRCh37] Chr1:1q25.2 |
uncertain significance |
GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3 | copy number gain | not specified [RCV003986506] | Chr1:173162501..182702252 [GRCh37] Chr1:1q25.1-25.3 |
pathogenic |
GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1 | copy number loss | not specified [RCV003987250] | Chr1:167994071..187711459 [GRCh37] Chr1:1q24.2-31.1 |
pathogenic |
NM_033343.4(LHX4):c.498C>T (p.Ala166=) | single nucleotide variant | LHX4-related disorder [RCV003948958]|not provided [RCV003722171] | Chr1:180271426 [GRCh38] Chr1:180240561 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_033343.4(LHX4):c.607-17T>C | single nucleotide variant | not provided [RCV003819296] | Chr1:180271818 [GRCh38] Chr1:180240953 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_033343.4(LHX4):c.1154T>C (p.Met385Thr) | single nucleotide variant | Inborn genetic diseases [RCV004415029] | Chr1:180274560 [GRCh38] Chr1:180243695 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.737C>T (p.Ala246Val) | single nucleotide variant | not specified [RCV004526300] | Chr1:180271965 [GRCh38] Chr1:180241100 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.54G>A (p.Glu18=) | single nucleotide variant | ACBD6-related disorder [RCV003981700] | Chr1:180502213 [GRCh38] Chr1:180471348 [GRCh37] Chr1:1q25.3 |
likely benign |
NM_032360.4(ACBD6):c.456A>G (p.Glu152=) | single nucleotide variant | ACBD6-related disorder [RCV003976960] | Chr1:180430191 [GRCh38] Chr1:180399326 [GRCh37] Chr1:1q25.3 |
likely benign |
NM_032360.4(ACBD6):c.-10G>T | single nucleotide variant | ACBD6-related disorder [RCV003912117] | Chr1:180502276 [GRCh38] Chr1:180471411 [GRCh37] Chr1:1q25.3 |
likely benign |
NM_033343.4(LHX4):c.623G>A (p.Arg208Lys) | single nucleotide variant | Inborn genetic diseases [RCV004415032] | Chr1:180271851 [GRCh38] Chr1:180240986 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.828C>T (p.Asn276=) | single nucleotide variant | LHX4-related disorder [RCV003909597] | Chr1:180274234 [GRCh38] Chr1:180243369 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_032360.4(ACBD6):c.223-6A>G | single nucleotide variant | ACBD6-related disorder [RCV003911538] | Chr1:180495531 [GRCh38] Chr1:180464666 [GRCh37] Chr1:1q25.3 |
likely benign |
NM_033343.4(LHX4):c.1026G>A (p.Ala342=) | single nucleotide variant | LHX4-related disorder [RCV003934117] | Chr1:180274432 [GRCh38] Chr1:180243567 [GRCh37] Chr1:1q25.2 |
likely benign |
NM_032360.4(ACBD6):c.663+7G>A | single nucleotide variant | ACBD6-related disorder [RCV003952314] | Chr1:180397509 [GRCh38] Chr1:180366644 [GRCh37] Chr1:1q25.3 |
likely benign |
NM_033343.4(LHX4):c.778+9G>A | single nucleotide variant | LHX4-related disorder [RCV003946998] | Chr1:180272015 [GRCh38] Chr1:180241150 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.448T>C (p.Tyr150His) | single nucleotide variant | Inborn genetic diseases [RCV004431915] | Chr1:180430199 [GRCh38] Chr1:180399334 [GRCh37] Chr1:1q25.3 |
uncertain significance |
NM_032360.4(ACBD6):c.187G>T (p.Glu63Ter) | single nucleotide variant | Neurodevelopmental disorder with progressive movement abnormalities [RCV004577651] | Chr1:180502080 [GRCh38] Chr1:180471215 [GRCh37] Chr1:1q25.3 |
pathogenic |
NM_033343.4(LHX4):c.689G>A (p.Ser230Asn) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV004556022] | Chr1:180271917 [GRCh38] Chr1:180241052 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.484_488del (p.Asn161_Ile162insTer) | deletion | Neurodevelopmental disorder with progressive movement abnormalities [RCV004577650] | Chr1:180413451..180413455 [GRCh38] Chr1:180382586..180382590 [GRCh37] Chr1:1q25.3 |
pathogenic |
NM_032360.4(ACBD6):c.474del (p.Asp159fs) | deletion | Neurodevelopmental disorder with progressive movement abnormalities [RCV004577652] | Chr1:180413465 [GRCh38] Chr1:180382600 [GRCh37] Chr1:1q25.3 |
pathogenic |
NM_032360.4(ACBD6):c.82dup (p.Val28fs) | duplication | Neurodevelopmental disorder with progressive movement abnormalities [RCV004577649] | Chr1:180502184..180502185 [GRCh38] Chr1:180471319..180471320 [GRCh37] Chr1:1q25.3 |
pathogenic |
NM_033343.4(LHX4):c.694A>G (p.Lys232Glu) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV004566638] | Chr1:180271922 [GRCh38] Chr1:180241057 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.662A>C (p.Gln221Pro) | single nucleotide variant | Inborn genetic diseases [RCV004431922] | Chr1:180397517 [GRCh38] Chr1:180366652 [GRCh37] Chr1:1q25.3 |
uncertain significance |
NM_032360.4(ACBD6):c.44G>T (p.Ser15Ile) | single nucleotide variant | Inborn genetic diseases [RCV004602160] | Chr1:180502223 [GRCh38] Chr1:180471358 [GRCh37] Chr1:1q25.3 |
uncertain significance |
NC_000001.10:g.(?_179520308)_(183559464_?)del | deletion | not provided [RCV004579068] | Chr1:179520308..183559464 [GRCh37] Chr1:1q25.2-25.3 |
pathogenic |
NM_033343.4(LHX4):c.1103G>T (p.Ser368Ile) | single nucleotide variant | Inborn genetic diseases [RCV004642467] | Chr1:180274509 [GRCh38] Chr1:180243644 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.688A>G (p.Ser230Gly) | single nucleotide variant | Inborn genetic diseases [RCV004642468] | Chr1:180271916 [GRCh38] Chr1:180241051 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.855A>C (p.Leu285Phe) | single nucleotide variant | Inborn genetic diseases [RCV004633970] | Chr1:180274261 [GRCh38] Chr1:180243396 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.379C>T (p.Pro127Ser) | single nucleotide variant | Inborn genetic diseases [RCV004607098] | Chr1:180492274 [GRCh38] Chr1:180461409 [GRCh37] Chr1:1q25.3 |
uncertain significance |
NM_033343.4(LHX4):c.475C>T (p.Arg159Trp) | single nucleotide variant | not provided [RCV004593469] | Chr1:180271403 [GRCh38] Chr1:180240538 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.1157A>G (p.Asp386Gly) | single nucleotide variant | Inborn genetic diseases [RCV004633971] | Chr1:180274563 [GRCh38] Chr1:180243698 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.1112A>C (p.Tyr371Ser) | single nucleotide variant | Inborn genetic diseases [RCV004642466] | Chr1:180274518 [GRCh38] Chr1:180243653 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.703C>T (p.Arg235Trp) | single nucleotide variant | Inborn genetic diseases [RCV004642465] | Chr1:180271931 [GRCh38] Chr1:180241066 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.704G>C (p.Arg235Pro) | single nucleotide variant | Inborn genetic diseases [RCV004642469] | Chr1:180271932 [GRCh38] Chr1:180241067 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.701C>T (p.Ala234Val) | single nucleotide variant | Inborn genetic diseases [RCV004602152] | Chr1:180288511 [GRCh38] Chr1:180257646 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.63_64del (p.Asp23fs) | deletion | not provided [RCV004768973] | Chr1:180502203..180502204 [GRCh38] Chr1:180471338..180471339 [GRCh37] Chr1:1q25.3 |
pathogenic |
NC_000001.11:g.180271835_180271846del | deletion | not provided [RCV004777433] | Chr1:180271832..180271843 [GRCh38] Chr1:180240967..180240978 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_032360.4(ACBD6):c.522A>G (p.Ile174Met) | single nucleotide variant | Inborn genetic diseases [RCV004965022] | Chr1:180413417 [GRCh38] Chr1:180382552 [GRCh37] Chr1:1q25.3 |
uncertain significance |
NM_032360.4(ACBD6):c.235A>G (p.Asn79Asp) | single nucleotide variant | Inborn genetic diseases [RCV004965023] | Chr1:180495513 [GRCh38] Chr1:180464648 [GRCh37] Chr1:1q25.3 |
uncertain significance |
NM_033343.4(LHX4):c.983_999del (p.Asn328fs) | deletion | not provided [RCV004776014] | Chr1:180274389..180274405 [GRCh38] Chr1:180243524..180243540 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.973C>T (p.Pro325Ser) | single nucleotide variant | Inborn genetic diseases [RCV004986583] | Chr1:180274379 [GRCh38] Chr1:180243514 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.1020C>G (p.Ile340Met) | single nucleotide variant | Inborn genetic diseases [RCV004986587] | Chr1:180274426 [GRCh38] Chr1:180243561 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.880G>A (p.Gly294Arg) | single nucleotide variant | Inborn genetic diseases [RCV004986584] | Chr1:180274286 [GRCh38] Chr1:180243421 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.601G>A (p.Val201Ile) | single nucleotide variant | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV005008961] | Chr1:180271529 [GRCh38] Chr1:180240664 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.467G>A (p.Gly156Glu) | single nucleotide variant | Inborn genetic diseases [RCV004986585] | Chr1:180271395 [GRCh38] Chr1:180240530 [GRCh37] Chr1:1q25.2 |
uncertain significance |
NM_033343.4(LHX4):c.1127C>A (p.Thr376Asn) | single nucleotide variant | Inborn genetic diseases [RCV004986586] | Chr1:180274533 [GRCh38] Chr1:180243668 [GRCh37] Chr1:1q25.2 |
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 |
RH80540 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
AL034203 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
SHGC-154434 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
SHGC-76002 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
REN85236 |
|
||||||||||||||||||||||||||||||||||||||||||||||||||
At-8BJ-008 |
|
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
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2432 | 2788 | 2245 | 4942 | 1720 | 2342 | 4 | 619 | 1948 | 461 | 2268 | 7278 | 6454 | 52 | 3708 | 847 | 1731 | 1612 | 171 |
RefSeq Transcripts | NM_032360 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_047432080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047432081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047432082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047432083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047432084 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_047432085 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339185 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339186 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339187 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339189 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_054339190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001737484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_001737485 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002957801 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_921977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_921978 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA085012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK314112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL139141 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL358354 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL445469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL537685 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL561590 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY606133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC006505 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU170874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OM258702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OM258703 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OM258704 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OM258705 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000367595 ⟹ ENSP00000356567 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000415414 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000440959 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000475338 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000496993 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000622400 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000642319 ⟹ ENSP00000495710 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000645415 ⟹ ENSP00000494507 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_032360 ⟹ NP_115736 | ||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_047432080 ⟹ XP_047288036 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047432081 ⟹ XP_047288037 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047432082 ⟹ XP_047288038 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047432083 ⟹ XP_047288039 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047432084 ⟹ XP_047288040 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_047432085 ⟹ XP_047288041 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339185 ⟹ XP_054195160 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339186 ⟹ XP_054195161 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339187 ⟹ XP_054195162 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339188 ⟹ XP_054195163 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339189 ⟹ XP_054195164 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_054339190 ⟹ XP_054195165 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Protein RefSeqs | NP_115736 | (Get FASTA) | NCBI Sequence Viewer |
XP_047288036 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047288037 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047288038 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047288039 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047288040 | (Get FASTA) | NCBI Sequence Viewer | |
XP_047288041 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195160 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195161 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195162 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195163 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195164 | (Get FASTA) | NCBI Sequence Viewer | |
XP_054195165 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH06505 | (Get FASTA) | NCBI Sequence Viewer |
BAG36805 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91082 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91083 | (Get FASTA) | NCBI Sequence Viewer | |
EAW91084 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000356567 | ||
ENSP00000356567.3 | |||
ENSP00000494507.1 | |||
ENSP00000495710 | |||
ENSP00000495710.1 | |||
GenBank Protein | Q9BR61 | (Get FASTA) | NCBI Sequence Viewer |
USH09419 | (Get FASTA) | NCBI Sequence Viewer | |
USH09420 | (Get FASTA) | NCBI Sequence Viewer | |
USH09421 | (Get FASTA) | NCBI Sequence Viewer | |
USH09422 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_115736 ⟸ NM_032360 |
- UniProtKB: | Q9BR61 (UniProtKB/Swiss-Prot), B2RAA8 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000356567 ⟸ ENST00000367595 |
Ensembl Acc Id: | ENSP00000495710 ⟸ ENST00000642319 |
Ensembl Acc Id: | ENSP00000494507 ⟸ ENST00000645415 |
RefSeq Acc Id: | XP_047288039 ⟸ XM_047432083 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BR61 (UniProtKB/Swiss-Prot), B2RAA8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047288036 ⟸ XM_047432080 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BR61 (UniProtKB/Swiss-Prot), B2RAA8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047288038 ⟸ XM_047432082 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BR61 (UniProtKB/Swiss-Prot), B2RAA8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047288037 ⟸ XM_047432081 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BR61 (UniProtKB/Swiss-Prot), B2RAA8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047288041 ⟸ XM_047432085 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BR61 (UniProtKB/Swiss-Prot), B2RAA8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047288040 ⟸ XM_047432084 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BR61 (UniProtKB/Swiss-Prot), B2RAA8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195163 ⟸ XM_054339188 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BR61 (UniProtKB/Swiss-Prot), B2RAA8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195160 ⟸ XM_054339185 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BR61 (UniProtKB/Swiss-Prot), B2RAA8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195162 ⟸ XM_054339187 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BR61 (UniProtKB/Swiss-Prot), B2RAA8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195161 ⟸ XM_054339186 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BR61 (UniProtKB/Swiss-Prot), B2RAA8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195165 ⟸ XM_054339190 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BR61 (UniProtKB/Swiss-Prot), B2RAA8 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_054195164 ⟸ XM_054339189 |
- Peptide Label: | isoform X1 |
- UniProtKB: | Q9BR61 (UniProtKB/Swiss-Prot), B2RAA8 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9BR61-F1-model_v2 | AlphaFold | Q9BR61 | 1-282 | view protein structure |
RGD ID: | 6784543 | ||||||||
Promoter ID: | HG_KWN:6409 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | OTTHUMT00000084998 | ||||||||
Position: |
|
RGD ID: | 6858284 | ||||||||
Promoter ID: | EPDNEW_H2307 | ||||||||
Type: | initiation region | ||||||||
Name: | ACBD6_2 | ||||||||
Description: | acyl-CoA binding domain containing 6 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2308 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6858286 | ||||||||
Promoter ID: | EPDNEW_H2308 | ||||||||
Type: | initiation region | ||||||||
Name: | ACBD6_1 | ||||||||
Description: | acyl-CoA binding domain containing 6 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H2307 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:23339 | AgrOrtholog |
COSMIC | ACBD6 | COSMIC |
Ensembl Genes | ENSG00000230124 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000367595 | ENTREZGENE |
ENST00000367595.4 | UniProtKB/Swiss-Prot | |
ENST00000642319 | ENTREZGENE | |
ENST00000642319.1 | UniProtKB/Swiss-Prot | |
ENST00000645415.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.80.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
1.25.40.20 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000230124 | GTEx |
HGNC ID | HGNC:23339 | ENTREZGENE |
Human Proteome Map | ACBD6 | Human Proteome Map |
InterPro | Acyl-CoA-binding_protein | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Acyl-CoA-binding_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ankyrin_rpt | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ankyrin_rpt-contain_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
FERM/acyl-CoA-bd_prot_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:84320 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 84320 | ENTREZGENE |
OMIM | 616352 | OMIM |
PANTHER | ACYL-COA-BINDING DOMAIN-CONTAINING PROTEIN 6 | UniProtKB/Swiss-Prot |
ACYL-COA-BINDING DOMAIN-CONTAINING PROTEIN 6 | UniProtKB/Swiss-Prot | |
ACYL-COA-BINDING DOMAIN-CONTAINING PROTEIN 6 | UniProtKB/TrEMBL | |
ACYL-COA-BINDING DOMAIN-CONTAINING PROTEIN 6 | UniProtKB/TrEMBL | |
Pfam | ACBP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ank_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PharmGKB | PA134925459 | PharmGKB |
PRINTS | ACOABINDINGP | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ANKYRIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PROSITE | ACB_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ANK_REP_REGION | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
ANK_REPEAT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | ANK | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF47027 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF48403 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A2R8Y544_HUMAN | UniProtKB/TrEMBL |
ACBD6_HUMAN | UniProtKB/Swiss-Prot | |
B2RAA8 | ENTREZGENE, UniProtKB/TrEMBL | |
Q9BR61 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2011-07-27 | ACBD6 | acyl-CoA binding domain containing 6 | ACBD6 | acyl-Coenzyme A binding domain containing 6 | Symbol and/or name change | 5135510 | APPROVED |