chr1:94024994:C>T Detail (hg38) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,490,550-94,490,550 View the variant detail on this assembly version.
hg38 chr1:94,024,994-94,024,994

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.4594G>A NP_000341.2:p.Asp1532Asn
Ensemble ENST00000370225.4:c.4594G>A ENST00000370225.4:p.Asp1532Asn
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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 tgv2421177 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Likely pathogenic 2023-08-01 criteria provided, multiple submitters, no conflicts Severe early-childhood-onset retinal dystrophy germline unknown Detail
Likely pathogenic 2019-06-23 no assertion criteria provided inherited Detail
Pathogenic 2019-05-27 criteria provided, single submitter Retinal dystrophy germline Detail
not provided no assertion provided retinitis pigmentosa 19,cone-rod dystrophy 3,Age-related macular degeneration unknown Detail
not provided no assertion provided retinitis pigmentosa 19,cone-rod dystrophy 3,Age-related macular degeneration unknown Detail
not provided no assertion provided retinitis pigmentosa 19,cone-rod dystrophy 3,Age-related macular degeneration unknown Detail
Pathogenic 2023-05-30 criteria provided, single submitter retinitis pigmentosa germline Detail
Pathogenic 2023-07-10 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.4594G>A (p.Asp1532Asn) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) AND maculopathy ClinVar Detail
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) AND Retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) AND Retinitis pigmentosa ClinVar Detail
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) 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
rs62642574 dbSNP
Genome
hg38
Position
chr1:94,024,994-94,024,994
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs62642574
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121406
Allele Counts in All Race (ExAC)
11
Heterozygous Counts in All Race (ExAC)
11
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.060507717905211E-5
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