chr1:94485257:C>T Detail (hg19) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,485,257-94,485,257
hg38 chr1:94,019,701-94,019,701 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.5077G>A NP_000341.2:p.Val1693Ile
Ensemble ENST00000370225.4:c.5077G>A ENST00000370225.4:p.Val1693Ile
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 Conflicting classifications of pathogenicity
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 tgv2420859 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-22 criteria provided, conflicting interpretations not provided germline not provided Detail
Likely pathogenic 2019-01-04 criteria provided, single submitter Retinal dystrophy germline Detail
Likely pathogenic 2024-04-04 criteria provided, multiple submitters, no conflicts Severe early-childhood-onset retinal dystrophy germline unknown Detail
Uncertain significance 2023-12-01 criteria provided, multiple submitters, no conflicts Stargardt disease germline Detail
Likely pathogenic 2023-06-09 criteria provided, single submitter ABCA4-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.442 STARGARDT DISEASE 1 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) AND Retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) AND Stargardt disease ClinVar Detail
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) AND ABCA4-related disorder ClinVar Detail
NA DisGeNET 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
rs61750563 dbSNP
Genome
hg19
Position
chr1:94,485,257-94,485,257
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8074
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)
109132
Allele Counts in All Race (ExAC)
26
Heterozygous Counts in All Race (ExAC)
26
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.3824359491258292E-4
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