ClinVar

NM_198204.2(MLX):c.695T>C (p.Val232Ala)

Gene:

MLX:MAX dimerization protein MLX [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 42571563 (on Assembly GRCh38)
• Chr17: 40723581 (on Assembly GRCh37)

Preferred name:

NM_198204.2(MLX):c.695T>C (p.Val232Ala)

HGVS:

• NC_000017.11:g.42571563T>C
• NG_029442.1:g.9504T>C
• NG_031960.1:g.11269A>G
• NM_170607.3:c.857T>C
• NM_198204.2:c.695T>CMANE SELECT
• NM_198205.2:c.605T>C
• NP_733752.1:p.Val286Ala
• NP_937847.1:p.Val232Ala
• NP_937848.1:p.Val202Ala
• NC_000017.10:g.40723581T>C
• NM_170607.2:c.857T>C

This HGVS expression did not pass validation

Protein change:

V202A

Molecular consequence:

• NM_170607.3:c.857T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198204.2:c.695T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198205.2:c.605T>C - missense variant - [Sequence Ontology: SO:0001583]