Genomic variant #0000115969

Individual ID 00072254
Chromosome 11
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.111782390G>C
DNA change (hg38) g.111911666G>C
Published as -
ISCN -
DB-ID CRYAB_000021 See all 6 reported entries
Variant remarks -
Reference PubMed: Xia 2014, Journal: Xia 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Jamie Zeegers




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
CRYAB NM_001885.1 +?/. 1 c.59C>G - r.(?) p.(Pro20Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072409 DNA PCR;SEQ-NG - - CRYAB 1 Jamie Zeegers