ClinVar

NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser)

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: 32040122 (on Assembly GRCh38)
• Chr6: 32007899 (on Assembly GRCh37)

Preferred name:

NM_000500.9(CYP21A2):c.856G>T (p.Ala286Ser)

HGVS:

• NC_000006.12:g.32040122G>T
• NG_007941.3:g.6818G>T
• NG_008337.2:g.74253C>A
• NG_045215.1:g.2351G>T
• NM_000500.9:c.856G>TMANE SELECT
• NM_001128590.4:c.766G>T
• NM_001368143.2:c.451G>T
• NM_001368144.2:c.451G>T
• NP_000491.4:p.Ala286Ser
• NP_001122062.3:p.Ala256Ser
• NP_001355072.1:p.Ala151Ser
• NP_001355073.1:p.Ala151Ser
• LRG_829t1:c.856G>T
• LRG_829:g.6818G>T
• LRG_829p1:p.Ala286Ser
• NC_000006.11:g.32007899G>T
• NM_000500.7:c.856G>T

This HGVS expression did not pass validation

Protein change:

A151S

Links:

dbSNP: rs570785206

NCBI 1000 Genomes Browser:

rs570785206

Molecular consequence:

• NM_000500.9:c.856G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128590.4:c.766G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368143.2:c.451G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368144.2:c.451G>T - missense variant - [Sequence Ontology: SO:0001583]