ClinVar

NM_001365276.2(TNXB):c.12352A>T (p.Met4118Leu)

Genes:

CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]
LOC106780803:tenascin XB recombination region [Gene]
TNXB:tenascin XB [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 32042129 (on Assembly GRCh38)
• Chr6: 32009906 (on Assembly GRCh37)

Preferred name:

NM_001365276.2(TNXB):c.12352A>T (p.Met4118Leu)

HGVS:

• NC_000006.12:g.32042129T>A
• NG_007941.3:g.8825T>A
• NG_008337.2:g.72246A>T
• NG_045227.1:g.622T>A
• NM_001365276.2:c.12352A>TMANE SELECT
• NM_019105.8:c.12346A>T
• NM_032470.4:c.1639A>T
• NP_001352205.1:p.Met4118Leu
• NP_061978.6:p.Met4116Leu
• NP_115859.2:p.Met547Leu
• LRG_829:g.8825T>A
• NC_000006.11:g.32009906T>A
• NM_019105.6:c.12346A>T

This HGVS expression did not pass validation

Protein change:

M4116L

Links:

dbSNP: rs766874405

NCBI 1000 Genomes Browser:

rs766874405

Molecular consequence:

• NM_001365276.2:c.12352A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_019105.8:c.12346A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032470.4:c.1639A>T - missense variant - [Sequence Ontology: SO:0001583]