RGD:13809098 Rat Genome Database

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Variant: RGD:13809098 -  Homo sapiens

RGD ID: 13809098
RS ID: rs150697472
ClinVar ID: CV576925
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP21A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 32,008,923
GRCh38 6 32,041,146
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128590.4:c.*12C>T
NM_000500.9:c.*12C>T
NG_007941.3:g.7842C>T
NC_000006.12:g.32041146C>T
More... 		10/20/2020 3 prime utr variant conflicting interpretations of pathogenicity|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP21A2
Accession:NM_001128590
Location:3UTRS;EXON

Gene Symbol:CYP21A2
Accession:NM_000500
Location:3UTRS;EXON

Gene Symbol:CYP21A2
Accession:NM_001368144
Location:3UTRS;EXON

Gene Symbol:CYP21A2
Accession:NM_001368143
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25227725   PMID:26467025   PMID:28401898   PMID:28487735   PMID:29266270   PMID:32616876   PMID:37324257  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000711366 CLINVAR
dbSNP (RS) rs150697472 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP21A2 CLINVAR
  TNXB CLINVAR
OMIM 600985 CLINVAR
  613815 CLINVAR