chr1:94011334:G>C Detail (hg38) (ABCA4)

Information

Genome

Assembly Position
hg19 chr1:94,476,890-94,476,890 View the variant detail on this assembly version.
hg38 chr1:94,011,334-94,011,334

HGVS

Type Transcript Protein
RefSeq NM_000350.2:c.5512C>G NP_000341.2:p.His1838Asp
Ensemble ENST00000370225.4:c.5512C>G ENST00000370225.4:p.His1838Asp
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:[No Data.]

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 tgv2420463 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-06-28 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Likely pathogenic 2016-01-01 criteria provided, single submitter Severe early-childhood-onset retinal dystrophy germline Detail
Pathogenic 2017-12-13 no assertion criteria provided Stargardt disease inherited Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) AND not provided ClinVar Detail
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) AND Severe early-childhood-onset retinal dystrophy ClinVar Detail
NM_000350.2(ABCA4):c.[5512C>G;5882G>A] AND Stargardt disease 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
rs62642562 dbSNP
Genome
hg38
Position
chr1:94,011,334-94,011,334
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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))
rs62642562
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))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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