ClinVar

NM_000251.3(MSH2):c.1A>T (p.Met1Leu)

Gene:

MSH2:mutS homolog 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47403192 (on Assembly GRCh38)
• Chr2: 47630331 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.1A>T (p.Met1Leu)

HGVS:

• NC_000002.12:g.47403192A>T
• NG_007110.2:g.5069A>T
• NM_000251.3:c.1A>TMANE SELECT
• NM_001258281.1:c.-31+17A>T
• NP_000242.1:p.Met1Leu
• NP_000242.1:p.Met1Leu
• LRG_218t1:c.1A>T
• LRG_218:g.5069A>T
• LRG_218p1:p.Met1Leu
• NC_000002.11:g.47630331A>T
• NM_000251.1:c.1A>T
• NM_000251.2:c.1A>T

This HGVS expression did not pass validation

Protein change:

M1L

Links:

dbSNP: rs267607911

NCBI 1000 Genomes Browser:

rs267607911

Molecular consequence:

• NM_000251.3:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001258281.1:c.-31+17A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000251.3:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]