Variant #0000393416 (NC_000023.10:g.15800751G>A, CA5B(NM_007220.3):c.918G>A)

Individual ID 00172674
Chromosome X
Allele Parent #1
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.15800751G>A
DNA change (hg38) g.15782628G>A
Published as A306A
ISCN -
DB-ID CA5B_000039
Variant remarks recurrent, found 66 times
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 66/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.31696 View details
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CA5B NM_007220.3 -?/. - c.918G>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173557 DNA SEQ - - VSIG4 1 Lucy Raymond