ClinVar

NM_000500.9(CYP21A2):c.952C>T (p.Leu318=)

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: 32040418 (on Assembly GRCh38)
• Chr6: 32008195 (on Assembly GRCh37)

Preferred name:

NM_000500.9(CYP21A2):c.952C>T (p.Leu318=)

HGVS:

• NC_000006.12:g.32040418C>T
• NG_007941.3:g.7114C>T
• NG_008337.2:g.73957G>A
• NG_045215.1:g.2647C>T
• NM_000500.9:c.952C>TMANE SELECT
• NM_001128590.4:c.862C>T
• NM_001368143.2:c.547C>T
• NM_001368144.2:c.547C>T
• NP_000491.4:p.Leu318=
• NP_001122062.3:p.Leu288=
• NP_001355072.1:p.Leu183=
• NP_001355073.1:p.Leu183=
• LRG_829t1:c.952C>T
• LRG_829:g.7114C>T
• LRG_829p1:p.Leu318=
• NC_000006.11:g.32008195C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1776217797

NCBI 1000 Genomes Browser:

rs1776217797

Molecular consequence:

• NM_000500.9:c.952C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001128590.4:c.862C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368143.2:c.547C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001368144.2:c.547C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

6