Variant #0000393415 (NC_000023.10:g.15782747C>A, CA5B(NM_007220.3):c.189C>A)

Individual ID 00172673
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.15782747C>A
DNA change (hg38) g.15764624C>A
Published as R63R
ISCN -
DB-ID CA5B_000038
Variant remarks found once, nonrecurrent change
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Lucy Raymond
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CA5B NM_007220.3 -?/. - c.189C>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173556 DNA SEQ - - VSIG4 1 Lucy Raymond