ClinVar

NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)

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: 32039426 (on Assembly GRCh38)
• Chr6: 32007203 (on Assembly GRCh37)

Preferred name:

NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)

Other names:

I172N; rs6475

HGVS:

• NC_000006.12:g.32039426T>A
• NG_007941.3:g.6122T>A
• NG_008337.2:g.74949A>T
• NG_045215.1:g.1655T>A
• NM_000500.9:c.518T>AMANE SELECT
• NM_001128590.4:c.428T>A
• NM_001368143.2:c.113T>A
• NM_001368144.2:c.113T>A
• NP_000491.4:p.Ile173Asn
• NP_001122062.3:p.Ile143Asn
• NP_001355072.1:p.Ile38Asn
• NP_001355073.1:p.Ile38Asn
• LRG_829t1:c.518T>A
• LRG_829:g.6122T>A
• LRG_829p1:p.Ile173Asn
• NC_000006.11:g.32007203T>A
• NG_007941.2:g.6119T>A
• NM_000500.2:c.518T>A
• NM_000500.5:c.518T>A
• NM_000500.7:c.518T>A

This HGVS expression did not pass validation

Protein change:

I143N; ILE172ASN

Links:

OMIM: 613815.0001; dbSNP: rs6475

NCBI 1000 Genomes Browser:

rs6475

Molecular consequence:

• NM_000500.9:c.518T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128590.4:c.428T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368143.2:c.113T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368144.2:c.113T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1