ClinVar

NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=)

Genes:

LOC106780800:CYP21A2 recombination region [Gene]
CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 32040933 (on Assembly GRCh38)
• Chr6: 32008710 (on Assembly GRCh37)

Preferred name:

NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=)

HGVS:

• NC_000006.12:g.32040933C>T
• NG_007941.3:g.7629C>T
• NG_008337.2:g.73442G>A
• NG_045215.1:g.3162C>T
• NM_000500.9:c.1287C>TMANE SELECT
• NM_001128590.4:c.1197C>T
• NM_001368143.2:c.882C>T
• NM_001368144.2:c.882C>T
• NP_000491.4:p.Cys429=
• NP_001122062.3:p.Cys399=
• NP_001355072.1:p.Cys294=
• NP_001355073.1:p.Cys294=
• LRG_829t1:c.1287C>T
• LRG_829:g.7629C>T
• LRG_829p1:p.Cys429=
• NC_000006.11:g.32008710C>T
• NM_000500.6:c.1284C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs193922543

NCBI 1000 Genomes Browser:

rs193922543

Molecular consequence:

• NM_000500.9:c.1287C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001128590.4:c.1197C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368143.2:c.882C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368144.2:c.882C>T - synonymous variant - [Sequence Ontology: SO:0001819]