chr21:43172222:C>A Detail (hg38) (CRYAA)

Information

Genome

Assembly Position
hg19 chr21:44,592,332-44,592,332 View the variant detail on this assembly version.
hg38 chr21:43,172,222-43,172,222

HGVS

Type Transcript Protein
RefSeq NM_000394.3:c.464C>A NP_000385.1:p.Ala155Asp
Ensemble ENST00000291554.6:c.464C>A ENST00000291554.6:p.Ala155Asp
ENST00000398132.1:c.353C>A ENST00000398132.1:p.Ala118Asp
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 Uncertain significance
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
Uncertain significance 2018-01-13 criteria provided, single submitter cataract 9 multiple types germline Detail
Uncertain significance 2021-07-08 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000394.4(CRYAA):c.464C>A (p.Ala155Asp) AND Cataract 9 multiple types ClinVar Detail
NM_000394.4(CRYAA):c.464C>A (p.Ala155Asp) AND not specified 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
rs143992484 dbSNP
Genome
hg38
Position
chr21:43,172,222-43,172,222
Variant Type
snv
Reference Allele
C
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8560
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)
119558
Allele Counts in All Race (ExAC)
12
Heterozygous Counts in All Race (ExAC)
12
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.003696950434099E-4
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