Variant #0000530002 (NC_000006.11:g.90572060C>T, CASP8AP2(NM_001137667.1):c.632C>T)

Chromosome 6
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.90572060C>T
DNA change (hg38) g.89862341C>T
Published as CASP8AP2(NM_001137667.1):c.632C>T (p.(Thr211Ile))
ISCN -
DB-ID CASP8AP2_000001
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00225 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CASP8AP2 NM_001137667.1 -?/. - c.632C>T r.(?) p.(Thr211Ile)