ClinVar

NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)

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: 32041006 (on Assembly GRCh38)
• Chr6: 32008783 (on Assembly GRCh37)

Preferred name:

NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)

Other names:

P453S

HGVS:

• NC_000006.12:g.32041006C>T
• NG_007941.3:g.7702C>T
• NG_008337.2:g.73369G>A
• NG_045215.1:g.3235C>T
• NM_000500.9:c.1360C>TMANE SELECT
• NM_001128590.4:c.1270C>T
• NM_001368143.2:c.955C>T
• NM_001368144.2:c.955C>T
• NP_000491.4:p.Pro454Ser
• NP_001122062.3:p.Pro424Ser
• NP_001355072.1:p.Pro319Ser
• NP_001355073.1:p.Pro319Ser
• LRG_829t1:c.1360C>T
• LRG_829:g.7702C>T
• LRG_829p1:p.Pro454Ser
• NC_000006.11:g.32008783C>T
• NG_007941.2:g.7699C>T
• NM_000500.5:c.1360C>T
• NM_000500.7:c.1360C>T

This HGVS expression did not pass validation

Protein change:

P319S; PRO453SER

Links:

OMIM: 613815.0009; OMIM: 613815.0010; OMIM: 613815.0021; dbSNP: rs6445

NCBI 1000 Genomes Browser:

rs6445

Molecular consequence:

• NM_000500.9:c.1360C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128590.4:c.1270C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368143.2:c.955C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368144.2:c.955C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1