chr21:43172105:G>A Detail (hg38) (CRYAA)

Information

Genome

Assembly Position
hg19 chr21:44,592,215-44,592,215 View the variant detail on this assembly version.
hg38 chr21:43,172,105-43,172,105

HGVS

Type Transcript Protein
RefSeq NM_000394.3:c.347G>A NP_000385.1:p.Arg116His
Ensemble ENST00000291554.6:c.347G>A ENST00000291554.6:p.Arg116His
ENST00000398132.1:c.236G>A ENST00000398132.1:p.Arg79His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 123580 OMIM
HGNC 2388 HGNC
Ensembl ENSG00000160202 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 2008-04-01 no assertion criteria provided Cataract 9, multiple types, with microcornea germline Detail
Pathogenic 2022-07-06 criteria provided, single submitter cataract 9 multiple types germline Detail
Pathogenic 2022-12-01 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.218 cataract The present study identified a missense mutation (R116H) in the CRYAA gene that ... BeFree 22065922 Detail
0.002 Bilateral cataracts (disorder) The present study identified a missense mutation (R116H) in the CRYAA gene that ... BeFree 22065922 Detail
0.320 CATARACT, AUTOSOMAL DOMINANT NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000394.4(CRYAA):c.347G>A (p.Arg116His) AND Cataract 9, multiple types, with microcornea ClinVar Detail
NM_000394.4(CRYAA):c.347G>A (p.Arg116His) AND Cataract 9 multiple types ClinVar Detail
NM_000394.4(CRYAA):c.347G>A (p.Arg116His) AND not provided ClinVar Detail
The present study identified a missense mutation (R116H) in the CRYAA gene that causes autosomal dom... DisGeNET Detail
The present study identified a missense mutation (R116H) in the CRYAA gene that causes autosomal dom... DisGeNET 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
rs121912973 dbSNP
Genome
hg38
Position
chr21:43,172,105-43,172,105
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser