ClinVar

NM_001365276.2(TNXB):c.12731G>T (p.Gly4244Val)

Genes:

CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]
TNXB:tenascin XB [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 32041353 (on Assembly GRCh38)
• Chr6: 32009130 (on Assembly GRCh37)

Preferred name:

NM_001365276.2(TNXB):c.12731G>T (p.Gly4244Val)

Other names:

p.Gly4242Val

HGVS:

• NC_000006.12:g.32041353C>A
• NG_007941.3:g.8049C>A
• NG_008337.2:g.73022G>T
• NM_000500.9:c.*219C>AMANE SELECT
• NM_001128590.4:c.*219C>A
• NM_001365276.2:c.12731G>TMANE SELECT
• NM_001368143.2:c.*219C>A
• NM_001368144.2:c.*219C>A
• NM_019105.8:c.12725G>T
• NM_032470.4:c.2018G>T
• NP_001352205.1:p.Gly4244Val
• NP_061978.6:p.Gly4242Val
• NP_115859.2:p.Gly673Val
• LRG_829t1:c.*219C>A
• LRG_829:g.8049C>A
• NC_000006.11:g.32009130C>A

This HGVS expression did not pass validation

Protein change:

G4242V

Molecular consequence:

• NM_000500.9:c.*219C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001128590.4:c.*219C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001368143.2:c.*219C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001368144.2:c.*219C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001365276.2:c.12731G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_019105.8:c.12725G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032470.4:c.2018G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1