ClinVar

NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47804949 (on Assembly GRCh38)
• Chr2: 48032088 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)

HGVS:

• NC_000002.12:g.47804949G>A
• NG_007111.1:g.26803G>A
• NG_008397.1:g.105727C>T
• NM_000179.3:c.3478G>AMANE SELECT
• NM_001281492.2:c.3088G>A
• NM_001281493.2:c.2572G>A
• NM_001281494.2:c.2572G>A
• NP_000170.1:p.Val1160Ile
• NP_000170.1:p.Val1160Ile
• NP_001268421.1:p.Val1030Ile
• NP_001268422.1:p.Val858Ile
• NP_001268423.1:p.Val858Ile
• LRG_219t1:c.3478G>A
• LRG_219:g.26803G>A
• LRG_219p1:p.Val1160Ile
• NC_000002.11:g.48032088G>A
• NM_000179.2:c.3478G>A
• p.V1160I

This HGVS expression did not pass validation

Protein change:

V1030I

Links:

dbSNP: rs376799914

NCBI 1000 Genomes Browser:

rs376799914

Molecular consequence:

• NM_000179.3:c.3478G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3088G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2572G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2572G>A - missense variant - [Sequence Ontology: SO:0001583]