ClinVar

NM_002449.5(MSX2):c.1A>G (p.Met1Val)

Gene:

MSX2:msh homeobox 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.2

Genomic location:

• Chr5: 174724660 (on Assembly GRCh38)
• Chr5: 174151663 (on Assembly GRCh37)

Preferred name:

NM_002449.5(MSX2):c.1A>G (p.Met1Val)

HGVS:

• NC_000005.10:g.174724660A>G
• NG_008124.1:g.5089A>G
• NM_001363626.2:c.1A>G
• NM_002449.5:c.1A>GMANE SELECT
• NP_001350555.1:p.Met1Val
• NP_002440.2:p.Met1Val
• NC_000005.9:g.174151663A>G
• NM_002449.4:c.1A>G

This HGVS expression did not pass validation

Protein change:

M1V

Molecular consequence:

• NM_001363626.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_002449.5:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001363626.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_002449.5:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]