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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SLC44A4 | Human | autosomal dominant nonsyndromic deafness 72 | | IAGP | | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | SLC44A4 | Human | autosomal dominant nonsyndromic deafness 72 | | IAGP | | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins. | O'Regan S, etal., Proc Natl Acad Sci U S A 2000 Feb 15;97(4):1835-40. |
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 |
PMID:8125298 | PMID:12067718 | PMID:12477932 | PMID:12975309 | PMID:14574404 | PMID:14656967 | PMID:14702039 | PMID:15489334 | PMID:15715662 | PMID:16344560 | PMID:19056867 | PMID:19448619 |
PMID:19851445 | PMID:20421499 | PMID:20466734 | PMID:20526339 | PMID:21873635 | PMID:22789125 | PMID:23376485 | PMID:23533145 | PMID:23651124 | PMID:24379411 | PMID:24837172 | PMID:25715703 |
PMID:26741288 | PMID:26828122 | PMID:26901654 | PMID:27759029 | PMID:28013291 | PMID:28753073 | PMID:30021884 | PMID:32513696 | PMID:38713615 |
SLC44A4 (Homo sapiens - human) |
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Slc44a4 (Mus musculus - house mouse) |
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Slc44a4 (Rattus norvegicus - Norway rat) |
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Slc44a4 (Chinchilla lanigera - long-tailed chinchilla) |
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SLC44A4 (Pan paniscus - bonobo/pygmy chimpanzee) |
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SLC44A4 (Canis lupus familiaris - dog) |
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Slc44a4 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SLC44A4 (Sus scrofa - pig) |
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SLC44A4 (Chlorocebus sabaeus - green monkey) |
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Slc44a4 (Heterocephalus glaber - naked mole-rat) |
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Variants in SLC44A4
242 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_025257.2(SLC44A4):c.1583G>A (p.Gly528Glu) | single nucleotide variant | Malignant melanoma [RCV000067292] | Chr6:31865601 [GRCh38] Chr6:31833378 [GRCh37] Chr6:31941357 [NCBI36] Chr6:6p21.33 |
not provided |
NM_025257.2(SLC44A4):c.1250C>T (p.Ser417Phe) | single nucleotide variant | Malignant melanoma [RCV000067293] | Chr6:31866110 [GRCh38] Chr6:31833887 [GRCh37] Chr6:31941866 [NCBI36] Chr6:6p21.33 |
not provided |
NM_025257.3(SLC44A4):c.1763_1764del (p.Val588fs) | deletion | Deafness, autosomal dominant 72 [RCV001333261] | Chr6:31865077..31865078 [GRCh38] Chr6:31832854..31832855 [GRCh37] Chr6:6p21.33 |
pathogenic |
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 | copy number gain | See cases [RCV000143497] | Chr6:156974..46789291 [GRCh38] Chr6:156974..46757028 [GRCh37] Chr6:101974..46864987 [NCBI36] Chr6:6p25.3-12.3 |
pathogenic |
NM_025257.3(SLC44A4):c.33G>T (p.Glu11Asp) | single nucleotide variant | not specified [RCV004319457] | Chr6:31878948 [GRCh38] Chr6:31846725 [GRCh37] Chr6:6p21.33 |
uncertain significance |
GRCh37/hg19 6p21.33(chr6:31777500-31831302)x1 | copy number loss | See cases [RCV000449096] | Chr6:31777500..31831302 [GRCh37] Chr6:6p21.33 |
likely benign |
GRCh37/hg19 6p21.33(chr6:31384577-31902308)x3 | copy number gain | See cases [RCV000448679] | Chr6:31384577..31902308 [GRCh37] Chr6:6p21.33 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 | copy number gain | See cases [RCV000512067] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_025257.3(SLC44A4):c.466A>G (p.Met156Val) | single nucleotide variant | Hearing loss, autosomal dominant 72 [RCV000496999] | Chr6:31874723 [GRCh38] Chr6:31842500 [GRCh37] Chr6:6p21.33 |
pathogenic|no classifications from unflagged records |
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) | copy number gain | See cases [RCV000510595] | Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
NM_025257.3(SLC44A4):c.344T>C (p.Val115Ala) | single nucleotide variant | not specified [RCV004683767] | Chr6:31874845 [GRCh38] Chr6:31842622 [GRCh37] Chr6:6p21.33 |
uncertain significance |
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 | copy number gain | not provided [RCV000745400] | Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 | copy number gain | not provided [RCV000745404] | Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 | copy number gain | not provided [RCV000745403] | Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27 |
pathogenic |
GRCh37/hg19 6p22.1-21.32(chr6:28130359-32108367)x3 | copy number gain | not provided [RCV000745592] | Chr6:28130359..32108367 [GRCh37] Chr6:6p22.1-21.32 |
uncertain significance |
NM_025257.3(SLC44A4):c.1038-48A>G | single nucleotide variant | not provided [RCV001644422] | Chr6:31869685 [GRCh38] Chr6:31837462 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.530-156G>A | single nucleotide variant | not provided [RCV001667270] | Chr6:31871717 [GRCh38] Chr6:31839494 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1130+72C>T | single nucleotide variant | not provided [RCV001691277] | Chr6:31869473 [GRCh38] Chr6:31837250 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.813C>T (p.Tyr271=) | single nucleotide variant | Hearing loss, autosomal dominant 72 [RCV001810254]|not provided [RCV001693306] | Chr6:31870936 [GRCh38] Chr6:31838713 [GRCh37] Chr6:6p21.33 |
benign |
NC_000006.12:g.31879235C>A | single nucleotide variant | not provided [RCV001691765] | Chr6:31879235 [GRCh38] Chr6:31847012 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.90-18G>A | single nucleotide variant | not provided [RCV001665088] | Chr6:31876147 [GRCh38] Chr6:31843924 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.243-54C>G | single nucleotide variant | not provided [RCV001668722] | Chr6:31875082 [GRCh38] Chr6:31842859 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1156C>G (p.Gln386Glu) | single nucleotide variant | not provided [RCV000965206] | Chr6:31869232 [GRCh38] Chr6:31837009 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1487+8T>C | single nucleotide variant | not provided [RCV000922438] | Chr6:31865865 [GRCh38] Chr6:31833642 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.435G>C (p.Arg145Ser) | single nucleotide variant | not provided [RCV000949291] | Chr6:31874754 [GRCh38] Chr6:31842531 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.431A>G (p.Asn144Ser) | single nucleotide variant | not provided [RCV000949292] | Chr6:31874758 [GRCh38] Chr6:31842535 [GRCh37] Chr6:6p21.33 |
benign |
GRCh37/hg19 6p21.33(chr6:31824828-31834398) | copy number loss | Sialidosis type 2 [RCV001089960] | Chr6:31824828..31834398 [GRCh37] Chr6:6p21.33 |
pathogenic |
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) | copy number gain | not provided [RCV000767714] | Chr6:29455465..81447367 [GRCh37] Chr6:6p22.1-q14.1 |
pathogenic |
NM_025257.3(SLC44A4):c.523G>A (p.Ala175Thr) | single nucleotide variant | not provided [RCV003104973]|not specified [RCV004673832] | Chr6:31874466 [GRCh38] Chr6:31842243 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.644G>A (p.Arg215Gln) | single nucleotide variant | SLC44A4-related disorder [RCV004756489]|not provided [RCV003104405]|not specified [RCV004857957] | Chr6:31871371 [GRCh38] Chr6:31839148 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NC_000006.11:g.(?_30695893)_(31937492_?)dup | duplication | not provided [RCV003107453] | Chr6:30695893..31937492 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.451G>A (p.Gly151Arg) | single nucleotide variant | not specified [RCV004324675] | Chr6:31874738 [GRCh38] Chr6:31842515 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1189C>T (p.Pro397Ser) | single nucleotide variant | not provided [RCV001597797] | Chr6:31869199 [GRCh38] Chr6:31836976 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.41-139C>T | single nucleotide variant | not provided [RCV001654662] | Chr6:31877221 [GRCh38] Chr6:31844998 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.89+127T>C | single nucleotide variant | not provided [RCV001594610] | Chr6:31876907 [GRCh38] Chr6:31844684 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.2011+58dup | duplication | not provided [RCV001684107] | Chr6:31864579..31864580 [GRCh38] Chr6:31832356..31832357 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1785A>G (p.Thr595=) | single nucleotide variant | not provided [RCV000978369] | Chr6:31865056 [GRCh38] Chr6:31832833 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.937+1G>A | single nucleotide variant | not provided [RCV000907500] | Chr6:31870811 [GRCh38] Chr6:31838588 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1131-32G>A | single nucleotide variant | not provided [RCV001656750] | Chr6:31869289 [GRCh38] Chr6:31837066 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.90-92C>T | single nucleotide variant | not provided [RCV001682074] | Chr6:31876221 [GRCh38] Chr6:31843998 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.368A>T (p.Asp123Val) | single nucleotide variant | not provided [RCV001676462] | Chr6:31874821 [GRCh38] Chr6:31842598 [GRCh37] Chr6:6p21.33 |
benign |
GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3 | copy number gain | not provided [RCV001005791] | Chr6:31036397..34088832 [GRCh37] Chr6:6p21.33-21.31 |
likely pathogenic |
NM_025257.3(SLC44A4):c.2011+115C>T | single nucleotide variant | not provided [RCV001615652] | Chr6:31864537 [GRCh38] Chr6:31832314 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.559G>A (p.Val187Ile) | single nucleotide variant | Hearing loss, autosomal dominant 72 [RCV001810117]|not provided [RCV001608352] | Chr6:31871532 [GRCh38] Chr6:31839309 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1130+45G>T | single nucleotide variant | Hearing loss, autosomal dominant 72 [RCV001810160]|not provided [RCV001637322] | Chr6:31869500 [GRCh38] Chr6:31837277 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.937+44C>T | single nucleotide variant | Hearing loss, autosomal dominant 72 [RCV001810174]|not provided [RCV001641338] | Chr6:31870768 [GRCh38] Chr6:31838545 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.976A>G (p.Met326Val) | single nucleotide variant | Hearing loss, autosomal dominant 72 [RCV001810136]|not provided [RCV001616767] | Chr6:31870664 [GRCh38] Chr6:31838441 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1038-77T>C | single nucleotide variant | not provided [RCV001658419] | Chr6:31869714 [GRCh38] Chr6:31837491 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1233+105A>C | single nucleotide variant | not provided [RCV001658449] | Chr6:31869050 [GRCh38] Chr6:31836827 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.702-116G>A | single nucleotide variant | not provided [RCV001620419] | Chr6:31871163 [GRCh38] Chr6:31838940 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.537G>A (p.Gly179=) | single nucleotide variant | Hearing loss, autosomal dominant 72 [RCV001810289]|not provided [RCV001716526] | Chr6:31871554 [GRCh38] Chr6:31839331 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.2011+72del | deletion | not provided [RCV001645745] | Chr6:31864580 [GRCh38] Chr6:31832357 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.90-20C>T | single nucleotide variant | not provided [RCV001669502] | Chr6:31876149 [GRCh38] Chr6:31843926 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.997C>T (p.Arg333Trp) | single nucleotide variant | Hearing loss, autosomal dominant 72 [RCV001329415]|not provided [RCV003770816]|not specified [RCV004035673] | Chr6:31870643 [GRCh38] Chr6:31838420 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1038-89G>C | single nucleotide variant | not provided [RCV001694793] | Chr6:31869726 [GRCh38] Chr6:31837503 [GRCh37] Chr6:6p21.33 |
benign |
NC_000006.12:g.31879123G>A | single nucleotide variant | not provided [RCV001683798] | Chr6:31879123 [GRCh38] Chr6:31846900 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.938-11G>A | single nucleotide variant | Hearing loss, autosomal dominant 72 [RCV001810206]|not provided [RCV001671018] | Chr6:31870713 [GRCh38] Chr6:31838490 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.17G>T (p.Arg6Leu) | single nucleotide variant | not provided [RCV001696650] | Chr6:31878964 [GRCh38] Chr6:31846741 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.309T>G (p.Val103=) | single nucleotide variant | not provided [RCV003104974] | Chr6:31874962 [GRCh38] Chr6:31842739 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1004G>A (p.Arg335His) | single nucleotide variant | not provided [RCV003108809]|not specified [RCV004244568] | Chr6:31870636 [GRCh38] Chr6:31838413 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.702-17C>A | single nucleotide variant | not specified [RCV004800792] | Chr6:31871064 [GRCh38] Chr6:31838841 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.37T>C (p.Tyr13His) | single nucleotide variant | not provided [RCV001814906] | Chr6:31878944 [GRCh38] Chr6:31846721 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1927-16G>A | single nucleotide variant | not provided [RCV002045741] | Chr6:31864752 [GRCh38] Chr6:31832529 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1972G>A (p.Val658Ile) | single nucleotide variant | not provided [RCV001896935] | Chr6:31864691 [GRCh38] Chr6:31832468 [GRCh37] Chr6:6p21.33 |
uncertain significance |
GRCh37/hg19 6p21.33(chr6:31384577-31902308) | copy number gain | not specified [RCV002053564] | Chr6:31384577..31902308 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1513G>A (p.Gly505Arg) | single nucleotide variant | not provided [RCV001988465] | Chr6:31865759 [GRCh38] Chr6:31833536 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1852T>C (p.Phe618Leu) | single nucleotide variant | not provided [RCV001864194]|not specified [RCV004857820] | Chr6:31864890 [GRCh38] Chr6:31832667 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1411_1412delinsGT (p.Ser471Val) | indel | not provided [RCV001874429] | Chr6:31865948..31865949 [GRCh38] Chr6:31833725..31833726 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1487G>A (p.Arg496His) | single nucleotide variant | not provided [RCV001872530] | Chr6:31865873 [GRCh38] Chr6:31833650 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.158T>C (p.Ile53Thr) | single nucleotide variant | not provided [RCV002021956] | Chr6:31876061 [GRCh38] Chr6:31843838 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.471G>A (p.Thr157=) | single nucleotide variant | not provided [RCV001909465] | Chr6:31874518 [GRCh38] Chr6:31842295 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.936C>T (p.Ala312=) | single nucleotide variant | not provided [RCV002049019] | Chr6:31870813 [GRCh38] Chr6:31838590 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1690G>A (p.Ala564Thr) | single nucleotide variant | not provided [RCV001878672] | Chr6:31865385 [GRCh38] Chr6:31833162 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1649A>C (p.Lys550Thr) | single nucleotide variant | not provided [RCV001933911] | Chr6:31865535 [GRCh38] Chr6:31833312 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1390G>A (p.Val464Ile) | single nucleotide variant | not provided [RCV001936268] | Chr6:31865970 [GRCh38] Chr6:31833747 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.526C>T (p.Pro176Ser) | single nucleotide variant | not provided [RCV002010825] | Chr6:31874463 [GRCh38] Chr6:31842240 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.617+1G>A | single nucleotide variant | not provided [RCV001923089] | Chr6:31871473 [GRCh38] Chr6:31839250 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.553A>G (p.Thr185Ala) | single nucleotide variant | not provided [RCV001867726] | Chr6:31871538 [GRCh38] Chr6:31839315 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.22G>A (p.Glu8Lys) | single nucleotide variant | not provided [RCV001867728]|not specified [RCV003987922] | Chr6:31878959 [GRCh38] Chr6:31846736 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.676G>A (p.Ala226Thr) | single nucleotide variant | not provided [RCV002033972] | Chr6:31871339 [GRCh38] Chr6:31839116 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.908A>T (p.Gln303Leu) | single nucleotide variant | not provided [RCV001973011] | Chr6:31870841 [GRCh38] Chr6:31838618 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.380T>C (p.Val127Ala) | single nucleotide variant | not provided [RCV002029744] | Chr6:31874809 [GRCh38] Chr6:31842586 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.40+10G>C | single nucleotide variant | not provided [RCV002146486] | Chr6:31878931 [GRCh38] Chr6:31846708 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1582+14C>T | single nucleotide variant | not provided [RCV002129817] | Chr6:31865676 [GRCh38] Chr6:31833453 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1545C>T (p.Ala515=) | single nucleotide variant | not provided [RCV002209152] | Chr6:31865727 [GRCh38] Chr6:31833504 [GRCh37] Chr6:6p21.33 |
benign|likely benign |
NM_025257.3(SLC44A4):c.164-4G>A | single nucleotide variant | not provided [RCV002144814] | Chr6:31875934 [GRCh38] Chr6:31843711 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.606G>A (p.Gln202=) | single nucleotide variant | not provided [RCV002169842] | Chr6:31871485 [GRCh38] Chr6:31839262 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1130+16G>A | single nucleotide variant | not provided [RCV002191734] | Chr6:31869529 [GRCh38] Chr6:31837306 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.937+9C>T | single nucleotide variant | SLC44A4-related disorder [RCV003923713]|not provided [RCV002091651] | Chr6:31870803 [GRCh38] Chr6:31838580 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.822C>T (p.Tyr274=) | single nucleotide variant | not provided [RCV002174786] | Chr6:31870927 [GRCh38] Chr6:31838704 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1842CTT[1] (p.Phe618del) | microsatellite | not provided [RCV002117240] | Chr6:31864895..31864897 [GRCh38] Chr6:31832672..31832674 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.766C>A (p.Pro256Thr) | single nucleotide variant | not provided [RCV002149175] | Chr6:31870983 [GRCh38] Chr6:31838760 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1760+19dup | duplication | not provided [RCV002097456] | Chr6:31865295..31865296 [GRCh38] Chr6:31833072..31833073 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.2011+11C>A | single nucleotide variant | not provided [RCV002116575] | Chr6:31864641 [GRCh38] Chr6:31832418 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.942C>T (p.Ile314=) | single nucleotide variant | not provided [RCV002096368] | Chr6:31870698 [GRCh38] Chr6:31838475 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.555C>A (p.Thr185=) | single nucleotide variant | not provided [RCV002195225] | Chr6:31871536 [GRCh38] Chr6:31839313 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1760+19C>T | single nucleotide variant | not provided [RCV002171959] | Chr6:31865296 [GRCh38] Chr6:31833073 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.252G>A (p.Pro84=) | single nucleotide variant | not provided [RCV002149218] | Chr6:31875019 [GRCh38] Chr6:31842796 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1760+19C>G | single nucleotide variant | not provided [RCV002076538] | Chr6:31865296 [GRCh38] Chr6:31833073 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.618-6C>A | single nucleotide variant | not provided [RCV002131261] | Chr6:31871403 [GRCh38] Chr6:31839180 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1926+13C>G | single nucleotide variant | not provided [RCV002079246] | Chr6:31864803 [GRCh38] Chr6:31832580 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1760+16C>G | single nucleotide variant | not provided [RCV002212020] | Chr6:31865299 [GRCh38] Chr6:31833076 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1477C>T (p.Arg493Cys) | single nucleotide variant | not provided [RCV002136810] | Chr6:31865883 [GRCh38] Chr6:31833660 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.937C>G (p.Leu313Val) | single nucleotide variant | SLC44A4-related disorder [RCV003951004]|not provided [RCV002083779] | Chr6:31870812 [GRCh38] Chr6:31838589 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1131-15T>G | single nucleotide variant | not provided [RCV002163790] | Chr6:31869272 [GRCh38] Chr6:31837049 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.573G>A (p.Ala191=) | single nucleotide variant | not provided [RCV002122776] | Chr6:31871518 [GRCh38] Chr6:31839295 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.111C>T (p.Cys37=) | single nucleotide variant | not provided [RCV002120923] | Chr6:31876108 [GRCh38] Chr6:31843885 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1926+5G>T | single nucleotide variant | not provided [RCV002117528] | Chr6:31864811 [GRCh38] Chr6:31832588 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1254G>A (p.Ser418=) | single nucleotide variant | not provided [RCV002159321] | Chr6:31866106 [GRCh38] Chr6:31833883 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.90-13G>A | single nucleotide variant | not provided [RCV002143257] | Chr6:31876142 [GRCh38] Chr6:31843919 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1986T>C (p.Cys662=) | single nucleotide variant | not provided [RCV002176104] | Chr6:31864677 [GRCh38] Chr6:31832454 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.899G>C (p.Ser300Thr) | single nucleotide variant | not provided [RCV002155021] | Chr6:31870850 [GRCh38] Chr6:31838627 [GRCh37] Chr6:6p21.33 |
benign |
NC_000006.11:g.(?_30695893)_(36953949_?)dup | duplication | Proteasome-associated autoinflammatory syndrome 1 [RCV003113679] | Chr6:30695893..36953949 [GRCh37] Chr6:6p21.33-21.2 |
uncertain significance |
NM_025257.3(SLC44A4):c.256C>A (p.Leu86Ile) | single nucleotide variant | not provided [RCV003117236]|not specified [RCV004676176] | Chr6:31875015 [GRCh38] Chr6:31842792 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.363G>A (p.Pro121=) | single nucleotide variant | not provided [RCV003121951] | Chr6:31874826 [GRCh38] Chr6:31842603 [GRCh37] Chr6:6p21.33 |
likely benign|uncertain significance |
NM_025257.3(SLC44A4):c.1752C>T (p.Asn584=) | single nucleotide variant | not provided [RCV003104972] | Chr6:31865323 [GRCh38] Chr6:31833100 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.207C>T (p.Asn69=) | single nucleotide variant | SLC44A4-related disorder [RCV003954043]|not provided [RCV003104975] | Chr6:31875887 [GRCh38] Chr6:31843664 [GRCh37] Chr6:6p21.33 |
benign|likely benign |
NM_025257.3(SLC44A4):c.1673A>G (p.Asn558Ser) | single nucleotide variant | not provided [RCV002276144] | Chr6:31865511 [GRCh38] Chr6:31833288 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.599C>T (p.Thr200Ile) | single nucleotide variant | not provided [RCV002971623]|not specified [RCV004068260] | Chr6:31871492 [GRCh38] Chr6:31839269 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.457C>T (p.Pro153Ser) | single nucleotide variant | not provided [RCV002904463] | Chr6:31874732 [GRCh38] Chr6:31842509 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.40_40+7del | deletion | not provided [RCV002512295] | Chr6:31878934..31878941 [GRCh38] Chr6:31846711..31846718 [GRCh37] Chr6:6p21.33 |
benign|likely benign |
NM_025257.3(SLC44A4):c.698T>C (p.Leu233Pro) | single nucleotide variant | not provided [RCV002908895] | Chr6:31871317 [GRCh38] Chr6:31839094 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.2104C>T (p.Pro702Ser) | single nucleotide variant | not provided [RCV002617221] | Chr6:31863656 [GRCh38] Chr6:31831433 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1760+18C>G | single nucleotide variant | not provided [RCV002771350] | Chr6:31865297 [GRCh38] Chr6:31833074 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.40+8T>C | single nucleotide variant | SLC44A4-related disorder [RCV004756431]|not provided [RCV002914269] | Chr6:31878933 [GRCh38] Chr6:31846710 [GRCh37] Chr6:6p21.33 |
benign|likely benign |
NM_025257.3(SLC44A4):c.447G>T (p.Leu149=) | single nucleotide variant | not provided [RCV003039158] | Chr6:31874742 [GRCh38] Chr6:31842519 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.327G>C (p.Gln109His) | single nucleotide variant | not specified [RCV004098591] | Chr6:31874944 [GRCh38] Chr6:31842721 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1016C>T (p.Ala339Val) | single nucleotide variant | not provided [RCV002846970] | Chr6:31870624 [GRCh38] Chr6:31838401 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.751C>T (p.Arg251Cys) | single nucleotide variant | not provided [RCV002795278] | Chr6:31870998 [GRCh38] Chr6:31838775 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.75C>A (p.Gly25=) | single nucleotide variant | not provided [RCV002795554] | Chr6:31877048 [GRCh38] Chr6:31844825 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1103G>A (p.Cys368Tyr) | single nucleotide variant | not specified [RCV004104942] | Chr6:31869572 [GRCh38] Chr6:31837349 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.877C>G (p.Leu293Val) | single nucleotide variant | not provided [RCV003053872] | Chr6:31870872 [GRCh38] Chr6:31838649 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.243-14C>T | single nucleotide variant | not provided [RCV002820979] | Chr6:31875042 [GRCh38] Chr6:31842819 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.834G>T (p.Glu278Asp) | single nucleotide variant | not specified [RCV004125435] | Chr6:31870915 [GRCh38] Chr6:31838692 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.991C>T (p.Arg331Trp) | single nucleotide variant | not specified [RCV004105218] | Chr6:31870649 [GRCh38] Chr6:31838426 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1761-19_1761-15dup | duplication | not provided [RCV002666983] | Chr6:31865094..31865095 [GRCh38] Chr6:31832871..31832872 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.64_78del (p.Ser22_Pro26del) | deletion | not provided [RCV002786481] | Chr6:31877045..31877059 [GRCh38] Chr6:31844822..31844836 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1234-15C>T | single nucleotide variant | not provided [RCV002576027] | Chr6:31866141 [GRCh38] Chr6:31833918 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1228C>T (p.Pro410Ser) | single nucleotide variant | not provided [RCV002872316] | Chr6:31869160 [GRCh38] Chr6:31836937 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1234-15C>G | single nucleotide variant | not provided [RCV002572609] | Chr6:31866141 [GRCh38] Chr6:31833918 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.410G>C (p.Gly137Ala) | single nucleotide variant | not provided [RCV002801930] | Chr6:31874779 [GRCh38] Chr6:31842556 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1760+17C>T | single nucleotide variant | not provided [RCV002576118] | Chr6:31865298 [GRCh38] Chr6:31833075 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.849G>T (p.Leu283=) | single nucleotide variant | SLC44A4-related disorder [RCV003961341]|not provided [RCV002985552] | Chr6:31870900 [GRCh38] Chr6:31838677 [GRCh37] Chr6:6p21.33 |
benign|likely benign |
NM_025257.3(SLC44A4):c.31G>A (p.Glu11Lys) | single nucleotide variant | not provided [RCV002596734] | Chr6:31878950 [GRCh38] Chr6:31846727 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1760+17C>G | single nucleotide variant | not provided [RCV002572214] | Chr6:31865298 [GRCh38] Chr6:31833075 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.685T>C (p.Trp229Arg) | single nucleotide variant | not specified [RCV004180874] | Chr6:31871330 [GRCh38] Chr6:31839107 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.913G>A (p.Val305Met) | single nucleotide variant | not specified [RCV004171190] | Chr6:31870836 [GRCh38] Chr6:31838613 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1171G>C (p.Ala391Pro) | single nucleotide variant | SLC44A4-related disorder [RCV003916598]|not provided [RCV002900404] | Chr6:31869217 [GRCh38] Chr6:31836994 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1459T>C (p.Leu487=) | single nucleotide variant | not provided [RCV003031312] | Chr6:31865901 [GRCh38] Chr6:31833678 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1761-5C>G | single nucleotide variant | not provided [RCV002900627] | Chr6:31865085 [GRCh38] Chr6:31832862 [GRCh37] Chr6:6p21.33 |
likely benign|uncertain significance |
NM_025257.3(SLC44A4):c.1233+20A>G | single nucleotide variant | not provided [RCV002577520] | Chr6:31869135 [GRCh38] Chr6:31836912 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.145A>G (p.Ile49Val) | single nucleotide variant | not provided [RCV002832896] | Chr6:31876074 [GRCh38] Chr6:31843851 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1462A>T (p.Ile488Phe) | single nucleotide variant | not provided [RCV002602458]|not specified [RCV004068754] | Chr6:31865898 [GRCh38] Chr6:31833675 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.40+14G>A | single nucleotide variant | not provided [RCV002934069] | Chr6:31878927 [GRCh38] Chr6:31846704 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1683C>T (p.Ile561=) | single nucleotide variant | not provided [RCV002922115] | Chr6:31865501 [GRCh38] Chr6:31833278 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1601C>T (p.Ala534Val) | single nucleotide variant | not provided [RCV002714805] | Chr6:31865583 [GRCh38] Chr6:31833360 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.938-12C>T | single nucleotide variant | not provided [RCV002717408] | Chr6:31870714 [GRCh38] Chr6:31838491 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1960G>A (p.Gly654Ser) | single nucleotide variant | not provided [RCV002627975] | Chr6:31864703 [GRCh38] Chr6:31832480 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1982T>C (p.Met661Thr) | single nucleotide variant | not provided [RCV002629181]|not specified [RCV004070814] | Chr6:31864681 [GRCh38] Chr6:31832458 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1488-8C>T | single nucleotide variant | not provided [RCV002720828] | Chr6:31865792 [GRCh38] Chr6:31833569 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1868C>T (p.Pro623Leu) | single nucleotide variant | not provided [RCV002628405]|not specified [RCV004070581] | Chr6:31864874 [GRCh38] Chr6:31832651 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1853T>C (p.Phe618Ser) | single nucleotide variant | not provided [RCV005099845]|not specified [RCV004166941] | Chr6:31864889 [GRCh38] Chr6:31832666 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.2098G>C (p.Glu700Gln) | single nucleotide variant | not provided [RCV002600319] | Chr6:31863662 [GRCh38] Chr6:31831439 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.943G>A (p.Val315Met) | single nucleotide variant | not provided [RCV002604757] | Chr6:31870697 [GRCh38] Chr6:31838474 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1861C>T (p.Arg621Cys) | single nucleotide variant | not provided [RCV003068509] | Chr6:31864881 [GRCh38] Chr6:31832658 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.2059A>G (p.Met687Val) | single nucleotide variant | not provided [RCV003574982]|not specified [RCV004075345] | Chr6:31863701 [GRCh38] Chr6:31831478 [GRCh37] Chr6:6p21.33 |
likely benign|uncertain significance |
NM_025257.3(SLC44A4):c.1038-14T>C | single nucleotide variant | not provided [RCV002587212] | Chr6:31869651 [GRCh38] Chr6:31837428 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.491A>G (p.Gln164Arg) | single nucleotide variant | not provided [RCV002943988] | Chr6:31874498 [GRCh38] Chr6:31842275 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.89+5del | deletion | not provided [RCV002942292] | Chr6:31877029 [GRCh38] Chr6:31844806 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1777A>G (p.Lys593Glu) | single nucleotide variant | not specified [RCV004285050] | Chr6:31865064 [GRCh38] Chr6:31832841 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.851G>A (p.Arg284Gln) | single nucleotide variant | not specified [RCV004270136] | Chr6:31870898 [GRCh38] Chr6:31838675 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.133A>G (p.Ile45Val) | single nucleotide variant | not provided [RCV003730452]|not specified [RCV004259052] | Chr6:31876086 [GRCh38] Chr6:31843863 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.700G>T (p.Val234Phe) | single nucleotide variant | not specified [RCV003331705] | Chr6:31871315 [GRCh38] Chr6:31839092 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.256C>T (p.Leu86Phe) | single nucleotide variant | not specified [RCV004346937] | Chr6:31875015 [GRCh38] Chr6:31842792 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1546C>T (p.Arg516Trp) | single nucleotide variant | not specified [RCV004356579] | Chr6:31865726 [GRCh38] Chr6:31833503 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1760+19del | deletion | not provided [RCV003880266] | Chr6:31865296 [GRCh38] Chr6:31833073 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.3G>A (p.Met1Ile) | single nucleotide variant | not provided [RCV003543463] | Chr6:31878978 [GRCh38] Chr6:31846755 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1978G>A (p.Gly660Ser) | single nucleotide variant | not provided [RCV003872603] | Chr6:31864685 [GRCh38] Chr6:31832462 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1582+7C>G | single nucleotide variant | not provided [RCV003825540] | Chr6:31865683 [GRCh38] Chr6:31833460 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.383dup (p.Asn130fs) | duplication | SLC44A4-related disorder [RCV003400324] | Chr6:31874805..31874806 [GRCh38] Chr6:31842582..31842583 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1866C>T (p.Ile622=) | single nucleotide variant | not provided [RCV003826819] | Chr6:31864876 [GRCh38] Chr6:31832653 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1760+20G>A | single nucleotide variant | not provided [RCV003830387] | Chr6:31865295 [GRCh38] Chr6:31833072 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.41-1G>A | single nucleotide variant | not provided [RCV003572859] | Chr6:31877083 [GRCh38] Chr6:31844860 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1822G>A (p.Gly608Arg) | single nucleotide variant | not provided [RCV003740146] | Chr6:31865019 [GRCh38] Chr6:31832796 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.570G>A (p.Pro190=) | single nucleotide variant | not provided [RCV003828683] | Chr6:31871521 [GRCh38] Chr6:31839298 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.530-15G>A | single nucleotide variant | not provided [RCV003880325] | Chr6:31871576 [GRCh38] Chr6:31839353 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1160A>T (p.Tyr387Phe) | single nucleotide variant | not provided [RCV003829655] | Chr6:31869228 [GRCh38] Chr6:31837005 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1977C>T (p.Phe659=) | single nucleotide variant | not provided [RCV003577985] | Chr6:31864686 [GRCh38] Chr6:31832463 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.837G>A (p.Glu279=) | single nucleotide variant | not provided [RCV003572963] | Chr6:31870912 [GRCh38] Chr6:31838689 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.359G>T (p.Cys120Phe) | single nucleotide variant | not provided [RCV003876899] | Chr6:31874830 [GRCh38] Chr6:31842607 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1995G>A (p.Thr665=) | single nucleotide variant | not provided [RCV003826223] | Chr6:31864668 [GRCh38] Chr6:31832445 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.674T>C (p.Phe225Ser) | single nucleotide variant | not provided [RCV003880636] | Chr6:31871341 [GRCh38] Chr6:31839118 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.2011+10A>G | single nucleotide variant | not provided [RCV003880861] | Chr6:31864642 [GRCh38] Chr6:31832419 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.866C>G (p.Ser289Cys) | single nucleotide variant | not provided [RCV003880863] | Chr6:31870883 [GRCh38] Chr6:31838660 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1191C>T (p.Pro397=) | single nucleotide variant | not provided [RCV003833719] | Chr6:31869197 [GRCh38] Chr6:31836974 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.40G>A (p.Gly14Arg) | single nucleotide variant | not provided [RCV003834082] | Chr6:31878941 [GRCh38] Chr6:31846718 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1927-10T>C | single nucleotide variant | not provided [RCV003666244] | Chr6:31864746 [GRCh38] Chr6:31832523 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.243-11C>G | single nucleotide variant | not provided [RCV003851667] | Chr6:31875039 [GRCh38] Chr6:31842816 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1768G>A (p.Val590Ile) | single nucleotide variant | not provided [RCV003667959] | Chr6:31865073 [GRCh38] Chr6:31832850 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.469-6C>A | single nucleotide variant | not provided [RCV003817149] | Chr6:31874526 [GRCh38] Chr6:31842303 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.832G>C (p.Glu278Gln) | single nucleotide variant | not provided [RCV003561368] | Chr6:31870917 [GRCh38] Chr6:31838694 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.1603C>T (p.Arg535Cys) | single nucleotide variant | not provided [RCV003724960] | Chr6:31865581 [GRCh38] Chr6:31833358 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1905C>T (p.Asn635=) | single nucleotide variant | not provided [RCV003671711] | Chr6:31864837 [GRCh38] Chr6:31832614 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1583-16C>G | single nucleotide variant | not provided [RCV003861407] | Chr6:31865617 [GRCh38] Chr6:31833394 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1583-9C>T | single nucleotide variant | not provided [RCV003844465] | Chr6:31865610 [GRCh38] Chr6:31833387 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1037+11G>A | single nucleotide variant | not provided [RCV003679800] | Chr6:31870592 [GRCh38] Chr6:31838369 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.804G>T (p.Val268=) | single nucleotide variant | not provided [RCV003846950] | Chr6:31870945 [GRCh38] Chr6:31838722 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1037+7G>C | single nucleotide variant | not provided [RCV003732633] | Chr6:31870596 [GRCh38] Chr6:31838373 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1694T>C (p.Ile565Thr) | single nucleotide variant | not provided [RCV003734936] | Chr6:31865381 [GRCh38] Chr6:31833158 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1699G>A (p.Gly567Arg) | single nucleotide variant | not provided [RCV003847241] | Chr6:31865376 [GRCh38] Chr6:31833153 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.71G>A (p.Arg24Gln) | single nucleotide variant | not provided [RCV003732135] | Chr6:31877052 [GRCh38] Chr6:31844829 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1131-18T>C | single nucleotide variant | not provided [RCV003822585] | Chr6:31869275 [GRCh38] Chr6:31837052 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.568C>T (p.Pro190Ser) | single nucleotide variant | not provided [RCV003682726] | Chr6:31871523 [GRCh38] Chr6:31839300 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.660G>A (p.Lys220=) | single nucleotide variant | not provided [RCV003719372] | Chr6:31871355 [GRCh38] Chr6:31839132 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.653G>C (p.Ser218Thr) | single nucleotide variant | not provided [RCV003867644] | Chr6:31871362 [GRCh38] Chr6:31839139 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1038-6C>G | single nucleotide variant | SLC44A4-related disorder [RCV004756523]|not provided [RCV003567914] | Chr6:31869643 [GRCh38] Chr6:31837420 [GRCh37] Chr6:6p21.33 |
likely benign|uncertain significance |
NM_025257.3(SLC44A4):c.1685T>C (p.Met562Thr) | single nucleotide variant | not provided [RCV003712262] | Chr6:31865499 [GRCh38] Chr6:31833276 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.285C>G (p.Ile95Met) | single nucleotide variant | not provided [RCV003729331] | Chr6:31874986 [GRCh38] Chr6:31842763 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1232C>T (p.Thr411Met) | single nucleotide variant | not provided [RCV003728422]|not specified [RCV004867906] | Chr6:31869156 [GRCh38] Chr6:31836933 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.40+3G>A | single nucleotide variant | not provided [RCV003842050] | Chr6:31878938 [GRCh38] Chr6:31846715 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1927-17C>T | single nucleotide variant | not provided [RCV003821172] | Chr6:31864753 [GRCh38] Chr6:31832530 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1284C>T (p.Gly428=) | single nucleotide variant | not provided [RCV003731503] | Chr6:31866076 [GRCh38] Chr6:31833853 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.951G>A (p.Ala317=) | single nucleotide variant | SLC44A4-related disorder [RCV003904466] | Chr6:31870689 [GRCh38] Chr6:31838466 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.978G>A (p.Met326Ile) | single nucleotide variant | SLC44A4-related disorder [RCV003951893] | Chr6:31870662 [GRCh38] Chr6:31838439 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.242+14C>T | single nucleotide variant | not specified [RCV003988220] | Chr6:31875838 [GRCh38] Chr6:31843615 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.117_125del (p.Leu42_Phe44del) | deletion | SLC44A4-related disorder [RCV003901594] | Chr6:31876094..31876102 [GRCh38] Chr6:31843871..31843879 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.479C>T (p.Thr160Ile) | single nucleotide variant | not specified [RCV004461720] | Chr6:31874510 [GRCh38] Chr6:31842287 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.572C>T (p.Ala191Val) | single nucleotide variant | not specified [RCV004461722] | Chr6:31871519 [GRCh38] Chr6:31839296 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.707T>C (p.Leu236Pro) | single nucleotide variant | not specified [RCV004461724] | Chr6:31871042 [GRCh38] Chr6:31838819 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.362C>T (p.Pro121Leu) | single nucleotide variant | not specified [RCV004461719] | Chr6:31874827 [GRCh38] Chr6:31842604 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.538C>T (p.Arg180Cys) | single nucleotide variant | not specified [RCV004461721] | Chr6:31871553 [GRCh38] Chr6:31839330 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.163+6T>C | single nucleotide variant | SLC44A4-related disorder [RCV003914590]|not provided [RCV005101734] | Chr6:31876050 [GRCh38] Chr6:31843827 [GRCh37] Chr6:6p21.33 |
likely benign |
NC_000006.11:g.(?_31631971)_(31895135_?)del | deletion | not provided [RCV004578802] | Chr6:31631971..31895135 [GRCh37] Chr6:6p21.33 |
pathogenic |
NC_000006.11:g.(?_31620520)_(31937492_?)del | deletion | not provided [RCV004578883] | Chr6:31620520..31937492 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1834G>A (p.Val612Ile) | single nucleotide variant | not specified [RCV004586187] | Chr6:31864908 [GRCh38] Chr6:31832685 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1657A>G (p.Lys553Glu) | single nucleotide variant | not specified [RCV004674756] | Chr6:31865527 [GRCh38] Chr6:31833304 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1313C>T (p.Ser438Phe) | single nucleotide variant | not specified [RCV004674758] | Chr6:31866047 [GRCh38] Chr6:31833824 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.272T>A (p.Ile91Asn) | single nucleotide variant | SLC44A4-related disorder [RCV004756748] | Chr6:31874999 [GRCh38] Chr6:31842776 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.959A>C (p.Glu320Ala) | single nucleotide variant | not specified [RCV004862233] | Chr6:31870681 [GRCh38] Chr6:31838458 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1534G>C (p.Val512Leu) | single nucleotide variant | not specified [RCV004862235] | Chr6:31865738 [GRCh38] Chr6:31833515 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1669C>T (p.Arg557Cys) | single nucleotide variant | not specified [RCV004862234] | Chr6:31865515 [GRCh38] Chr6:31833292 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1922T>A (p.Ile641Asn) | single nucleotide variant | not specified [RCV004870600] | Chr6:31864820 [GRCh38] Chr6:31832597 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.596C>A (p.Thr199Asn) | single nucleotide variant | not provided [RCV005144940] | Chr6:31871495 [GRCh38] Chr6:31839272 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1386A>G (p.Gln462=) | single nucleotide variant | not provided [RCV005066751] | Chr6:31865974 [GRCh38] Chr6:31833751 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1760+16C>A | single nucleotide variant | not provided [RCV005086592] | Chr6:31865299 [GRCh38] Chr6:31833076 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1266_1285del (p.Met423fs) | deletion | not provided [RCV005087522] | Chr6:31866075..31866094 [GRCh38] Chr6:31833852..31833871 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.689A>T (p.Tyr230Phe) | single nucleotide variant | not specified [RCV004870594] | Chr6:31871326 [GRCh38] Chr6:31839103 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1612A>T (p.Met538Leu) | single nucleotide variant | not specified [RCV004870595] | Chr6:31865572 [GRCh38] Chr6:31833349 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.2017G>C (p.Asp673His) | single nucleotide variant | not specified [RCV004870596] | Chr6:31863743 [GRCh38] Chr6:31831520 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1273G>A (p.Val425Ile) | single nucleotide variant | not specified [RCV004870597] | Chr6:31866087 [GRCh38] Chr6:31833864 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1966T>C (p.Phe656Leu) | single nucleotide variant | not specified [RCV004870598] | Chr6:31864697 [GRCh38] Chr6:31832474 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1760+14C>T | single nucleotide variant | not provided [RCV005064541] | Chr6:31865301 [GRCh38] Chr6:31833078 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.2032_2052dup (p.Pro684_Tyr685insAsnGlySerLeuAspArgPro) | duplication | not provided [RCV005085968] | Chr6:31863707..31863708 [GRCh38] Chr6:31831484..31831485 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.2012-20C>T | single nucleotide variant | not provided [RCV005062168] | Chr6:31863768 [GRCh38] Chr6:31831545 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1337G>A (p.Gly446Glu) | single nucleotide variant | not provided [RCV005085591] | Chr6:31866023 [GRCh38] Chr6:31833800 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.2096A>G (p.Asn699Ser) | single nucleotide variant | not specified [RCV004870599] | Chr6:31863664 [GRCh38] Chr6:31831441 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.34G>A (p.Ala12Thr) | single nucleotide variant | not provided [RCV005132598] | Chr6:31878947 [GRCh38] Chr6:31846724 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1981A>C (p.Met661Leu) | single nucleotide variant | not provided [RCV005135661] | Chr6:31864682 [GRCh38] Chr6:31832459 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1987G>A (p.Val663Met) | single nucleotide variant | not provided [RCV005070281] | Chr6:31864676 [GRCh38] Chr6:31832453 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1858G>A (p.Gly620Ser) | single nucleotide variant | not provided [RCV005110685] | Chr6:31864884 [GRCh38] Chr6:31832661 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.174T>G (p.Tyr58Ter) | single nucleotide variant | not provided [RCV005149367] | Chr6:31875920 [GRCh38] Chr6:31843697 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1698C>T (p.Tyr566=) | single nucleotide variant | not provided [RCV005192811] | Chr6:31865377 [GRCh38] Chr6:31833154 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1486C>T (p.Arg496Cys) | single nucleotide variant | not provided [RCV005186519] | Chr6:31865874 [GRCh38] Chr6:31833651 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1165C>T (p.Leu389Phe) | single nucleotide variant | not provided [RCV005128432] | Chr6:31869223 [GRCh38] Chr6:31837000 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1455C>T (p.Phe485=) | single nucleotide variant | not provided [RCV005117926] | Chr6:31865905 [GRCh38] Chr6:31833682 [GRCh37] Chr6:6p21.33 |
benign |
NM_025257.3(SLC44A4):c.339C>A (p.Pro113=) | single nucleotide variant | not provided [RCV005144105] | Chr6:31874932 [GRCh38] Chr6:31842709 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.342+3C>T | single nucleotide variant | not provided [RCV005161812] | Chr6:31874926 [GRCh38] Chr6:31842703 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1759A>C (p.Arg587=) | single nucleotide variant | not provided [RCV005115678] | Chr6:31865316 [GRCh38] Chr6:31833093 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1530C>G (p.Thr510=) | single nucleotide variant | not provided [RCV005194644] | Chr6:31865742 [GRCh38] Chr6:31833519 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.1514G>A (p.Gly505Glu) | single nucleotide variant | not provided [RCV005117478] | Chr6:31865758 [GRCh38] Chr6:31833535 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.61C>A (p.Pro21Thr) | single nucleotide variant | not provided [RCV005116898] | Chr6:31877062 [GRCh38] Chr6:31844839 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.172T>C (p.Tyr58His) | single nucleotide variant | not provided [RCV005155179] | Chr6:31875922 [GRCh38] Chr6:31843699 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1760+17_1760+18insG | insertion | not provided [RCV005160152] | Chr6:31865297..31865298 [GRCh38] Chr6:31833074..31833075 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.22G>T (p.Glu8Ter) | single nucleotide variant | not provided [RCV005180035] | Chr6:31878959 [GRCh38] Chr6:31846736 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.559_560inv (p.Val187Thr) | inversion | not provided [RCV005118532] | Chr6:31871531..31871532 [GRCh38] Chr6:31839308..31839309 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.369C>T (p.Asp123=) | single nucleotide variant | not provided [RCV005083811] | Chr6:31874820 [GRCh38] Chr6:31842597 [GRCh37] Chr6:6p21.33 |
likely benign |
NM_025257.3(SLC44A4):c.425C>T (p.Thr142Ile) | single nucleotide variant | not provided [RCV005123846] | Chr6:31874764 [GRCh38] Chr6:31842541 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1192G>A (p.Gly398Ser) | single nucleotide variant | not provided [RCV005177295] | Chr6:31869196 [GRCh38] Chr6:31836973 [GRCh37] Chr6:6p21.33 |
uncertain significance |
NM_025257.3(SLC44A4):c.1892G>T (p.Ser631Ile) | single nucleotide variant | not provided [RCV005071900] | Chr6:31864850 [GRCh38] Chr6:31832627 [GRCh37] Chr6:6p21.33 |
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 |
D15S948E |
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RH70238 |
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RH46780 |
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WI-19170 |
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D6S2924 |
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||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
STS-X69838 |
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D6S2052 |
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||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
UniSTS:237636 |
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MARC_12895-12896:999881472:3 |
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MN6S1424 |
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D15S1477 |
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ksks210 |
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D8S2279 |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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pharyngeal arch
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1204 | 2418 | 2659 | 2106 | 4683 | 1691 | 2310 | 6 | 593 | 1593 | 434 | 2268 | 6641 | 5953 | 52 | 3449 | 1 | 848 | 1743 | 1607 | 173 | 1 |
RefSeq Transcripts | NG_023058 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001178044 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001178045 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_025257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AF134726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AI560195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI956094 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK027397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK222998 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK223013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK300550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK301596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK314673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL662834 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL671762 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL833009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL844853 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY358457 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BA000025 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC014659 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX005460 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR388202 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR759784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR936237 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DA924720 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC300771 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DC392935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HM005361 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU175229 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KY500651 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KY500652 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KY500653 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KY500654 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KY500655 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KY500656 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KY500657 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000229729 ⟹ ENSP00000229729 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000375562 ⟹ ENSP00000364712 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000414427 ⟹ ENSP00000398901 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000462671 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000465707 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000475563 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000479777 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000487680 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000544672 ⟹ ENSP00000444109 | ||||||||
Type: | CODING | ||||||||
Position: |
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Ensembl Acc Id: | ENST00000644409 ⟹ ENSP00000496109 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001178044 ⟹ NP_001171515 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001178045 ⟹ NP_001171516 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_025257 ⟹ NP_079533 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001171515 | (Get FASTA) | NCBI Sequence Viewer |
NP_001171516 | (Get FASTA) | NCBI Sequence Viewer | |
NP_079533 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD21813 | (Get FASTA) | NCBI Sequence Viewer |
AAH14659 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ88822 | (Get FASTA) | NCBI Sequence Viewer | |
AEE60961 | (Get FASTA) | NCBI Sequence Viewer | |
ANB32183 | (Get FASTA) | NCBI Sequence Viewer | |
AQY77123 | (Get FASTA) | NCBI Sequence Viewer | |
AQY77124 | (Get FASTA) | NCBI Sequence Viewer | |
AQY77125 | (Get FASTA) | NCBI Sequence Viewer | |
AQY77126 | (Get FASTA) | NCBI Sequence Viewer | |
AQY77127 | (Get FASTA) | NCBI Sequence Viewer | |
AQY77128 | (Get FASTA) | NCBI Sequence Viewer | |
AQY77129 | (Get FASTA) | NCBI Sequence Viewer | |
BAB55083 | (Get FASTA) | NCBI Sequence Viewer | |
BAB63296 | (Get FASTA) | NCBI Sequence Viewer | |
BAD96718 | (Get FASTA) | NCBI Sequence Viewer | |
BAG62256 | (Get FASTA) | NCBI Sequence Viewer | |
BAG63084 | (Get FASTA) | NCBI Sequence Viewer | |
CAH56275 | (Get FASTA) | NCBI Sequence Viewer | |
EAX03538 | (Get FASTA) | NCBI Sequence Viewer | |
EAX03539 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000229729 | ||
ENSP00000229729.6 | |||
ENSP00000364712 | |||
ENSP00000364712.4 | |||
ENSP00000372870.4 | |||
ENSP00000389244.2 | |||
ENSP00000393939.2 | |||
ENSP00000398852.2 | |||
ENSP00000399161.2 | |||
ENSP00000414120.2 | |||
ENSP00000444109 | |||
ENSP00000444109.1 | |||
ENSP00000447560.1 | |||
ENSP00000447704.1 | |||
ENSP00000448088.1 | |||
ENSP00000448474.1 | |||
ENSP00000449039.1 | |||
ENSP00000449180.1 | |||
ENSP00000449232.1 | |||
ENSP00000449518.1 | |||
ENSP00000449642.1 | |||
GenBank Protein | Q53GD3 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_079533 ⟸ NM_025257 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q96K59 (UniProtKB/Swiss-Prot), Q96C58 (UniProtKB/Swiss-Prot), Q8TEW4 (UniProtKB/Swiss-Prot), Q6UX89 (UniProtKB/Swiss-Prot), Q658S8 (UniProtKB/Swiss-Prot), Q5JQ93 (UniProtKB/Swiss-Prot), Q5JP84 (UniProtKB/Swiss-Prot), E9PEK7 (UniProtKB/Swiss-Prot), B4DWM2 (UniProtKB/Swiss-Prot), B4DU94 (UniProtKB/Swiss-Prot), B0UZY8 (UniProtKB/Swiss-Prot), B0UXX8 (UniProtKB/Swiss-Prot), A2BED3 (UniProtKB/Swiss-Prot), Q9Y332 (UniProtKB/Swiss-Prot), Q53GD3 (UniProtKB/Swiss-Prot), A0A140VJH4 (UniProtKB/TrEMBL), A0A0G2JL76 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001171515 ⟸ NM_001178044 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A0A0G2JL76 (UniProtKB/TrEMBL), A0A1U9X8K1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001171516 ⟸ NM_001178045 |
- Peptide Label: | isoform 3 |
- UniProtKB: | A0A1U9X8K7 (UniProtKB/TrEMBL), A0A0G2JL76 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000229729 ⟸ ENST00000229729 |
Ensembl Acc Id: | ENSP00000444109 ⟸ ENST00000544672 |
Ensembl Acc Id: | ENSP00000398901 ⟸ ENST00000414427 |
Ensembl Acc Id: | ENSP00000364712 ⟸ ENST00000375562 |
Ensembl Acc Id: | ENSP00000496109 ⟸ ENST00000644409 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q53GD3-F1-model_v2 | AlphaFold | Q53GD3 | 1-710 | view protein structure |
RGD ID: | 6872670 | ||||||||
Promoter ID: | EPDNEW_H9500 | ||||||||
Type: | initiation region | ||||||||
Name: | SLC44A4_1 | ||||||||
Description: | solute carrier family 44 member 4 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 6804804 | ||||||||
Promoter ID: | HG_KWN:53008 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562 | ||||||||
Transcripts: | OTTHUMT00000268532 | ||||||||
Position: |
|
RGD ID: | 6804145 | ||||||||
Promoter ID: | HG_KWN:53011 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | NB4 | ||||||||
Transcripts: | ENST00000229729, ENST00000375562, ENST00000375582, NM_001178044, OTTHUMT00000076235, OTTHUMT00000268528, OTTHUMT00000268529 | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:13941 | AgrOrtholog |
COSMIC | SLC44A4 | COSMIC |
Ensembl Genes | ENSG00000204385 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
ENSG00000206378 | UniProtKB/Swiss-Prot | |
ENSG00000228263 | UniProtKB/Swiss-Prot | |
ENSG00000229077 | UniProtKB/Swiss-Prot | |
ENSG00000231479 | UniProtKB/Swiss-Prot | |
ENSG00000232180 | UniProtKB/Swiss-Prot | |
ENSG00000235336 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000229729 | ENTREZGENE |
ENST00000229729.11 | UniProtKB/Swiss-Prot | |
ENST00000375562 | ENTREZGENE | |
ENST00000375562.8 | UniProtKB/Swiss-Prot | |
ENST00000383379.8 | UniProtKB/Swiss-Prot | |
ENST00000415517.6 | UniProtKB/Swiss-Prot | |
ENST00000417894.6 | UniProtKB/Swiss-Prot | |
ENST00000425238.6 | UniProtKB/Swiss-Prot | |
ENST00000442152.6 | UniProtKB/Swiss-Prot | |
ENST00000453831.6 | UniProtKB/Swiss-Prot | |
ENST00000544672 | ENTREZGENE | |
ENST00000544672.5 | UniProtKB/Swiss-Prot | |
ENST00000546461.3 | UniProtKB/Swiss-Prot | |
ENST00000547493.1 | UniProtKB/Swiss-Prot | |
ENST00000547684.1 | UniProtKB/Swiss-Prot | |
ENST00000548188.1 | UniProtKB/Swiss-Prot | |
ENST00000549663.5 | UniProtKB/Swiss-Prot | |
ENST00000549677.5 | UniProtKB/Swiss-Prot | |
ENST00000550401.2 | UniProtKB/Swiss-Prot | |
ENST00000551168.3 | UniProtKB/Swiss-Prot | |
ENST00000553121.5 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000204385 | GTEx |
ENSG00000206378 | GTEx | |
ENSG00000228263 | GTEx | |
ENSG00000229077 | GTEx | |
ENSG00000231479 | GTEx | |
ENSG00000232180 | GTEx | |
ENSG00000235336 | GTEx | |
HGNC ID | HGNC:13941 | ENTREZGENE |
Human Proteome Map | SLC44A4 | Human Proteome Map |
InterPro | Choline_transptr-like | UniProtKB/Swiss-Prot |
KEGG Report | hsa:80736 | UniProtKB/Swiss-Prot |
NCBI Gene | 80736 | ENTREZGENE |
OMIM | 606107 | OMIM |
PANTHER | CHOLINE TRANSPORTER-LIKE PROTEIN 4 | UniProtKB/Swiss-Prot |
PTHR12385 | UniProtKB/Swiss-Prot | |
Pfam | Choline_transpo | UniProtKB/Swiss-Prot |
PharmGKB | PA25930 | PharmGKB |
RNAcentral | URS00009B9A04 | RNACentral |
URS0002617BB2 | RNACentral | |
URS0002617E54 | RNACentral | |
UniProt | A0A0G2JIN1_HUMAN | UniProtKB/TrEMBL |
A0A0G2JL76 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A140VJH4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A1U9X8K1 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A1U9X8K7 | ENTREZGENE, UniProtKB/TrEMBL | |
A2BED3 | ENTREZGENE | |
B0UXX8 | ENTREZGENE | |
B0UZY8 | ENTREZGENE | |
B4DU94 | ENTREZGENE | |
B4DWM2 | ENTREZGENE | |
CTL4_HUMAN | UniProtKB/Swiss-Prot | |
E9PEK7 | ENTREZGENE | |
H0Y5I3_HUMAN | UniProtKB/TrEMBL | |
Q53GD3 | ENTREZGENE | |
Q5JP84 | ENTREZGENE | |
Q5JQ93 | ENTREZGENE | |
Q658S8 | ENTREZGENE | |
Q6UX89 | ENTREZGENE | |
Q8TEW4 | ENTREZGENE | |
Q96C58 | ENTREZGENE | |
Q96K59 | ENTREZGENE | |
Q9Y332 | ENTREZGENE | |
UniProt Secondary | A2BED3 | UniProtKB/Swiss-Prot |
B0UXX8 | UniProtKB/Swiss-Prot | |
B0UZY8 | UniProtKB/Swiss-Prot | |
B4DU94 | UniProtKB/Swiss-Prot | |
B4DWM2 | UniProtKB/Swiss-Prot | |
E9PEK7 | UniProtKB/Swiss-Prot | |
Q5JP84 | UniProtKB/Swiss-Prot | |
Q5JQ93 | UniProtKB/Swiss-Prot | |
Q658S8 | UniProtKB/Swiss-Prot | |
Q6UX89 | UniProtKB/Swiss-Prot | |
Q8TEW4 | UniProtKB/Swiss-Prot | |
Q96C58 | UniProtKB/Swiss-Prot | |
Q96K59 | UniProtKB/Swiss-Prot | |
Q9Y332 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-15 | SLC44A4 | solute carrier family 44 member 4 | solute carrier family 44, member 4 | Symbol and/or name change | 5135510 | APPROVED |