chr1:94528818:C>T Detail (hg19) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,528,818-94,528,818
hg38 chr1:94,063,262-94,063,262 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.1610G>A NP_000341.2:p.Arg537His
Ensemble ENST00000370225.4:c.1610G>A ENST00000370225.4:p.Arg537His
ENST00000649773.1:c.1610G>A ENST00000649773.1:p.Arg537His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601691 OMIM
HGNC 34 HGNC
Ensembl ENSG00000198691 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv2423105 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign Likely benign 2024-01-21 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Likely benign 2016-06-14 criteria provided, single submitter Stargardt Disease, Recessive germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Retinitis Pigmentosa, Recessive germline Detail
Likely benign 2016-06-14 criteria provided, single submitter Cone-Rod Dystrophy, Recessive germline Detail
Likely benign 2016-06-14 criteria provided, single submitter macular degeneration germline Detail
no classifications from unflagged records 2023-07-22 no classifications from unflagged records Retinal dystrophy germline Detail
Likely benign 2017-04-27 criteria provided, single submitter ABCA4-related disorder germline Detail
Likely pathogenic 2021-01-30 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) AND Stargardt Disease, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) AND Retinitis Pigmentosa, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) AND Cone-Rod Dystrophy, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) AND Macular degeneration ClinVar Detail
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) AND Retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) AND ABCA4-related disorder ClinVar Detail
NM_000350.3(ABCA4):c.[1610G>A;5603A>T] AND Severe early-childhood-onset retinal dystrophy ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs61752395 dbSNP
Genome
hg19
Position
chr1:94,528,818-94,528,818
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121412
Allele Counts in All Race (ExAC)
239
Heterozygous Counts in All Race (ExAC)
239
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.001968503937007874
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