ClinVar

NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)

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: 32038610 (on Assembly GRCh38)
• Chr6: 32006387 (on Assembly GRCh37)

Preferred name:

NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)

Other names:

H62L

HGVS:

• NC_000006.12:g.32038610A>T
• NG_007941.3:g.5306A>T
• NG_045215.1:g.839A>T
• NM_000500.9:c.188A>TMANE SELECT
• NM_001128590.4:c.188A>T
• NM_001368143.2:c.-237A>T
• NM_001368144.2:c.-147A>T
• NP_000491.4:p.His63Leu
• NP_001122062.3:p.His63Leu
• LRG_829t1:c.188A>T
• LRG_829:g.5306A>T
• LRG_829p1:p.His63Leu
• NC_000006.11:g.32006387A>T
• NM_000500.7:c.188A>T

This HGVS expression did not pass validation

Note:

NCBI staff reviewed the sequence information reported in PubMed 18319307 to determine the location of this allele on the current reference sequence.

Protein change:

H63L; HIS62LEU

Links:

OMIM: 613815.0034; dbSNP: rs9378252

NCBI 1000 Genomes Browser:

rs9378252

Molecular consequence:

• NM_001368143.2:c.-237A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001368144.2:c.-147A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000500.9:c.188A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128590.4:c.188A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2