ClinVar

NM_000500.9(CYP21A2):c.1087G>C (p.Ala363Pro)

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: 32040553 (on Assembly GRCh38)
• Chr6: 32008330 (on Assembly GRCh37)

Preferred name:

NM_000500.9(CYP21A2):c.1087G>C (p.Ala363Pro)

Other names:

Ala363Pro

HGVS:

• NC_000006.12:g.32040553G>C
• NG_007941.3:g.7249G>C
• NG_008337.2:g.73822C>G
• NG_045215.1:g.2782G>C
• NM_000500.9:c.1087G>CMANE SELECT
• NM_001128590.4:c.997G>C
• NM_001368143.2:c.682G>C
• NM_001368144.2:c.682G>C
• NP_000491.4:p.Ala363Pro
• NP_001122062.3:p.Ala333Pro
• NP_001355072.1:p.Ala228Pro
• NP_001355073.1:p.Ala228Pro
• LRG_829t1:c.1087G>C
• LRG_829:g.7249G>C
• LRG_829p1:p.Ala363Pro
• NC_000006.11:g.32008330G>C

This HGVS expression did not pass validation

Protein change:

A228P

Links:

dbSNP: rs2151875445

NCBI 1000 Genomes Browser:

rs2151875445

Molecular consequence:

• NM_000500.9:c.1087G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128590.4:c.997G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368143.2:c.682G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368144.2:c.682G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1