chr1:94471065:G>A Detail (hg19) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,471,065-94,471,065
hg38 chr1:94,005,509-94,005,509 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.6079C>T NP_000341.2:p.Leu2027Phe
Ensemble ENST00000370225.4:c.6079C>T ENST00000370225.4:p.Leu2027Phe
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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-03-30 criteria provided, multiple submitters, no conflicts Severe early-childhood-onset retinal dystrophy germline unknown Detail
Pathogenic 2019-01-01 criteria provided, single submitter cone-rod dystrophy 3 germline unknown Detail
Pathogenic 2024-01-29 criteria provided, multiple submitters, no conflicts not provided germline not provided unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter cone-rod dystrophy 3,age related macular degeneration 2,Severe early-childhood-onset retinal dystrophy,retinitis pigmentosa 19 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter cone-rod dystrophy 3,age related macular degeneration 2,Severe early-childhood-onset retinal dystrophy,retinitis pigmentosa 19 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter cone-rod dystrophy 3,age related macular degeneration 2,Severe early-childhood-onset retinal dystrophy,retinitis pigmentosa 19 unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter cone-rod dystrophy 3,age related macular degeneration 2,Severe early-childhood-onset retinal dystrophy,retinitis pigmentosa 19 unknown Detail
Pathogenic 2016-11-10 criteria provided, single submitter Stargardt disease germline Detail
Pathogenic 2019-08-12 criteria provided, single submitter Retinal dystrophy germline Detail
Pathogenic 2022-05-04 criteria provided, single submitter age related macular degeneration 2 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.442 STARGARDT DISEASE 1 (disorder) NA CLINVAR Detail
0.440 CONE-ROD DYSTROPHY 3 (disorder) NA CLINVAR Detail
0.442 STARGARDT DISEASE 1 (disorder) In addition, we report three new pseudodominant families that now comprise eight... UNIPROT 11379881 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) AND Cone-rod dystrophy 3 ClinVar Detail
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) AND multiple conditions ClinVar Detail
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) AND Stargardt disease ClinVar Detail
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) AND Retinal dystrophy ClinVar Detail
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) AND Age related macular degeneration 2 ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
In addition, we report three new pseudodominant families that now comprise eight of 178 outbred STGD... 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
rs61751408 dbSNP
Genome
hg19
Position
chr1:94,471,065-94,471,065
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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)
121404
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)
2.1416098316365194E-4
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