Variant #0000619359 (NC_000023.10:g.15800726A>G, CA5B(NM_007220.3):c.893A>G)

Chromosome X
Allele Unknown
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.15800726A>G
DNA change (hg38) g.15782603A>G
Published as CA5B(NM_007220.3):c.893A>G (p.H298R)
ISCN -
DB-ID CA5B_000041
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CA5B NM_007220.3 -?/. - c.893A>G r.(?) p.(His298Arg)