Variant #0000435950 (NC_000011.9:g.111781047A>C, NC_000011.9(NM_001885.1):c.324+4T>G (CRYAB))

Individual ID 00205368
Chromosome 11
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.111781047A>C
DNA change (hg38) g.111910323A>C
Published as -
ISCN -
DB-ID CRYAB_000015 See all 5 reported entries
Variant remarks detected in many patients
Reference PubMed: Inagaki 2006
ClinVar ID -
dbSNP ID rs11603779
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.27405 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-03-14 16:02:14 +01:00 (CET)
Date last edited 2012-11-02 20:40:47 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CRYAB NM_001885.1 -/. 2i c.324+4T>G r.spl? p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000206398 DNA SEQ - - CRYAB 1 Johan den Dunnen


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