Genomic variant #0000262716

Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.36661814C>T
DNA change (hg38) -
Published as APOL1(NM_145343.2):c.980C>T (p.S327L)
ISCN -
DB-ID APOL1_000013
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00015 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APOL1 NM_145343.2 ?/. - c.980C>T VUS r.(?) p.(Ser327Leu)