ClinVar

NM_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln)

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: 32040536 (on Assembly GRCh38)
• Chr6: 32008313 (on Assembly GRCh37)

Preferred name:

NM_000500.9(CYP21A2):c.1070G>A (p.Arg357Gln)

Other names:

p.Arg357Gln

HGVS:

• NC_000006.12:g.32040536G>A
• NG_007941.3:g.7232G>A
• NG_008337.2:g.73839C>T
• NG_045215.1:g.2765G>A
• NM_000500.9:c.1070G>AMANE SELECT
• NM_001128590.4:c.980G>A
• NM_001368143.2:c.665G>A
• NM_001368144.2:c.665G>A
• NP_000491.4:p.Arg357Gln
• NP_001122062.3:p.Arg327Gln
• NP_001355072.1:p.Arg222Gln
• NP_001355073.1:p.Arg222Gln
• LRG_829t1:c.1070G>A
• LRG_829:g.7232G>A
• LRG_829p1:p.Arg357Gln
• NC_000006.11:g.32008313G>A

This HGVS expression did not pass validation

Protein change:

R222Q

Links:

dbSNP: rs574370139

NCBI 1000 Genomes Browser:

rs574370139

Molecular consequence:

• NM_000500.9:c.1070G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001128590.4:c.980G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368143.2:c.665G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368144.2:c.665G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1