chr1:94031110:G>A Detail (hg38) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,496,666-94,496,666 View the variant detail on this assembly version.
hg38 chr1:94,031,110-94,031,110

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.4139C>T NP_000341.2:p.Pro1380Leu
Ensemble ENST00000370225.4:c.4139C>T ENST00000370225.4:p.Pro1380Leu
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 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 tgv300149195 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2021-01-30 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline unknown Detail
risk factor 2006-05-01 no assertion criteria provided MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO germline Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Pathogenic 2015-07-24 criteria provided, single submitter Mandibulofacial dysostosis with mental deficiency germline Detail
Pathogenic 2021-10-08 criteria provided, single submitter cone-rod dystrophy 3,retinitis pigmentosa 19,age related macular degeneration 2,Severe early-childhood-onset retinal dystrophy unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter cone-rod dystrophy 3,retinitis pigmentosa 19,age related macular degeneration 2,Severe early-childhood-onset retinal dystrophy unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter cone-rod dystrophy 3,retinitis pigmentosa 19,age related macular degeneration 2,Severe early-childhood-onset retinal dystrophy unknown Detail
Pathogenic 2021-10-08 criteria provided, single submitter cone-rod dystrophy 3,retinitis pigmentosa 19,age related macular degeneration 2,Severe early-childhood-onset retinal dystrophy unknown Detail
Pathogenic 2018-08-21 criteria provided, single submitter ABCA4-related disorder germline Detail
Pathogenic 2023-07-24 criteria provided, single submitter Stargardt disease germline inherited unknown Detail
Pathogenic 2019-08-14 criteria provided, single submitter Retinal dystrophy germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.442 STARGARDT DISEASE 1 (disorder) NA CLINVAR Detail
<0.001 Atrophic condition of skin Case 2 demonstrated atrophic fleck lesions involving the peripapillary region an... BeFree 18854780 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY... ClinVar Detail
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND Mandibulofacial dysostosis with mental deficiency ClinVar Detail
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND ABCA4-related disorder ClinVar Detail
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND Stargardt disease ClinVar Detail
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) AND Retinal dystrophy ClinVar Detail
NA DisGeNET Detail
Case 2 demonstrated atrophic fleck lesions involving the peripapillary region and central atrophy wi... 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
rs61750130 dbSNP
Genome
hg38
Position
chr1:94,031,110-94,031,110
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8592
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)
119274
Allele Counts in All Race (ExAC)
24
Heterozygous Counts in All Race (ExAC)
24
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.0121736505860456E-4
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