Variant #0000001117 (NC_000006.11:g.32006387A>T, CYP21A2(NM_000500.7):c.188A>T)

Individual ID 00000036
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.32006387A>T
DNA change (hg38) g.32038610A>T
Published as -
ISCN -
DB-ID CYP21A2_000002 See all 11 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.04392 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
CYP21A2 NM_000500.7 ?/. 1 c.188A>T r.(?) p.(His63Leu) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000036 DNA SEQ-NG - - AHI1, ATP7B, CYP21A2, DPYD, ETFB, GLB1, HEXB, LAMA2, SMPD1 9 Global Variome, with Curator vacancy