chr1:94010911:T>A Detail (hg38) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,476,467-94,476,467 View the variant detail on this assembly version.
hg38 chr1:94,010,911-94,010,911

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.5603A>T NP_000341.2:p.Asn1868Ile
Ensemble ENST00000370225.4:c.5603A>T ENST00000370225.4:p.Asn1868Ile
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 tgv300148383 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 2021-12-18 criteria provided, conflicting interpretations not provided germline not provided Detail
Benign 2014-05-20 criteria provided, multiple submitters, no conflicts not specified 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 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 macular degeneration germline Detail
Conflicting interpretations of pathogenicity 2022-06-23 criteria provided, conflicting interpretations Severe early-childhood-onset retinal dystrophy germline unknown Detail
Likely pathogenic 2019-06-23 no assertion criteria provided Stargardt disease inherited Detail
Conflicting interpretations of pathogenicity 2024-03-05 criteria provided, conflicting interpretations ABCA4-related disorder germline Detail
Uncertain significance 2019-06-27 criteria provided, single submitter age related macular degeneration 2 unknown Detail
Uncertain significance 2019-01-01 criteria provided, single submitter cone-rod dystrophy 3 unknown Detail
Likely pathogenic 2021-01-30 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy unknown Detail
Likely pathogenic 2021-01-30 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline Detail
Likely pathogenic 2021-01-30 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline Detail
Likely pathogenic 2021-01-30 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline Detail
Likely pathogenic 2021-01-30 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy unknown Detail
Likely pathogenic 2021-04-01 criteria provided, single submitter retinitis pigmentosa germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) AND not specified ClinVar Detail
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) AND Cone-Rod Dystrophy, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) AND Stargardt Disease, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) AND Retinitis Pigmentosa, Recessive ClinVar Detail
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) AND Macular degeneration ClinVar Detail
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) AND Stargardt disease ClinVar Detail
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) AND ABCA4-related disorder ClinVar Detail
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) AND Age related macular degeneration 2 ClinVar Detail
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) AND Cone-rod dystrophy 3 ClinVar Detail
NM_000350.3(ABCA4):c.[5603A>T;5714+5G>A] AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.[2588G>C;5603A>T] AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T] AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.[1610G>A;5603A>T] AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.[52C>T;5603A>T] AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) AND Retinitis pigmentosa 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
rs1801466 dbSNP
Genome
hg38
Position
chr1:94,010,911-94,010,911
Variant Type
snv
Reference Allele
T
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8650
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)
121330
Allele Counts in All Race (ExAC)
5406
Heterozygous Counts in All Race (ExAC)
5094
Homozygous Counts in All Race (ExAC)
156
Allele Frequency in All Race (ExAC)
0.04455616912552543
Genome browser