ClinVar

NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)

Gene:

MSH6:mutS homolog 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47798725 (on Assembly GRCh38)
• Chr2: 48025864 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)

Other names:

p.Arg248*

HGVS:

• NC_000002.12:g.47798725C>T
• NG_007111.1:g.20579C>T
• NM_000179.3:c.742C>TMANE SELECT
• NM_001281492.2:c.352C>T
• NM_001281493.2:c.-165C>T
• NM_001281494.2:c.-165C>T
• NP_000170.1:p.Arg248Ter
• NP_000170.1:p.Arg248Ter
• NP_001268421.1:p.Arg118Ter
• LRG_219t1:c.742C>T
• LRG_219:g.20579C>T
• LRG_219p1:p.Arg248Ter
• NC_000002.11:g.48025864C>T
• NM_000179.2:c.742C>T

This HGVS expression did not pass validation

Protein change:

R118*

Links:

dbSNP: rs63749980

NCBI 1000 Genomes Browser:

rs63749980

Molecular consequence:

• NM_001281493.2:c.-165C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001281494.2:c.-165C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000179.3:c.742C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001281492.2:c.352C>T - nonsense - [Sequence Ontology: SO:0001587]