Variant #0000693495 (NC_000023.10:g.15809072G>A, CA5B(NM_007220.3):c.*8285G>A)

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.15809072G>A
DNA change (hg38) -
Published as ZRSR2(NM_005089.3):c.57G>A (p.R19=)
ISCN -
DB-ID CA5B_000042
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     
ZRSR2 NM_005089.3 -?/. - c.57G>A r.(?) p.(Arg19=)
CA5B NM_007220.3 -?/. - c.*8285G>A r.(=) p.(=)