ClinVar

NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47804948 (on Assembly GRCh38)
• Chr2: 48032087 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)

Other names:

NP_000170.1:p.Tyr1159*

HGVS:

• NC_000002.12:g.47804948C>A
• NG_007111.1:g.26802C>A
• NG_008397.1:g.105728G>T
• NM_000179.3:c.3477C>AMANE SELECT
• NM_001281492.2:c.3087C>A
• NM_001281493.2:c.2571C>A
• NM_001281494.2:c.2571C>A
• NP_000170.1:p.Tyr1159Ter
• NP_000170.1:p.Tyr1159Ter
• NP_001268421.1:p.Tyr1029Ter
• NP_001268422.1:p.Tyr857Ter
• NP_001268423.1:p.Tyr857Ter
• LRG_219t1:c.3477C>A
• LRG_219:g.26802C>A
• LRG_219p1:p.Tyr1159Ter
• NC_000002.11:g.48032087C>A
• NM_000179.2:c.3477C>A

This HGVS expression did not pass validation

Protein change:

Y1029*

Links:

dbSNP: rs398123231

NCBI 1000 Genomes Browser:

rs398123231

Molecular consequence:

• NM_000179.3:c.3477C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001281492.2:c.3087C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001281493.2:c.2571C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001281494.2:c.2571C>A - nonsense - [Sequence Ontology: SO:0001587]