Genomic variant #0000001119

Individual ID 00000090, 00081376
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 (large NGS studies) Variant not found in online data sets
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

DNA/Legacy     
CYP21A2 NM_000500.7 ?/. 1 c.188A>T - r.(?) p.(His63Leu) -
HTT NM_002111.6 -/- 2i c.348-2680C>G C1 r.(?) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000090 DNA SEQ-NG - - CYP21A2, ERCC4, GLB1, HEXB, IGHMBP2, LAMA2, NHLRC1, NPHS1 8 Global Variome, with Curator vacancy
0000081489 DNA SEQ;arraySNP;PCR - - HTT 136 Chris Kay