ClinVar

NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p21

Genomic location:

• Chr2: 47403372 (on Assembly GRCh38)
• Chr2: 47630511 (on Assembly GRCh37)

Preferred name:

NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)

HGVS:

• NC_000002.12:g.47403372C>T
• NG_007110.2:g.5249C>T
• NM_000251.3:c.181C>TMANE SELECT
• NM_001258281.1:c.-18C>T
• NP_000242.1:p.Gln61Ter
• NP_000242.1:p.Gln61Ter
• LRG_218t1:c.181C>T
• LRG_218:g.5249C>T
• LRG_218p1:p.Gln61Ter
• NC_000002.11:g.47630511C>T
• NM_000251.1:c.181C>T
• NM_000251.2:c.181C>T

This HGVS expression did not pass validation

Protein change:

Q61*

Links:

dbSNP: rs63750951

NCBI 1000 Genomes Browser:

rs63750951

Molecular consequence:

• NM_001258281.1:c.-18C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000251.3:c.181C>T - nonsense - [Sequence Ontology: SO:0001587]