Variant #0000575067 (NC_000023.10:g.15768286C>T, CA5B(NM_007220.3):c.140C>T)

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.15768286C>T
DNA change (hg38) g.15750163C>T
Published as CA5B(NM_007220.3):c.140C>T (p.A47V)
ISCN -
DB-ID CA5B_000040
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.140C>T r.(?) p.(Ala47Val)