ClinVar

NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47803479 (on Assembly GRCh38)
• Chr2: 48030618 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu)

Other names:

p.V1078L:GTA>CTA

HGVS:

• NC_000002.12:g.47803479G>C
• NG_007111.1:g.25333G>C
• NM_000179.3:c.3232G>CMANE SELECT
• NM_001281492.2:c.2842G>C
• NM_001281493.2:c.2326G>C
• NM_001281494.2:c.2326G>C
• NP_000170.1:p.Val1078Leu
• NP_000170.1:p.Val1078Leu
• NP_001268421.1:p.Val948Leu
• NP_001268422.1:p.Val776Leu
• NP_001268423.1:p.Val776Leu
• LRG_219t1:c.3232G>C
• LRG_219:g.25333G>C
• LRG_219p1:p.Val1078Leu
• NC_000002.11:g.48030618G>C
• NM_000179.2:c.3232G>C

This HGVS expression did not pass validation

Protein change:

V1078L

Links:

dbSNP: rs587779932

NCBI 1000 Genomes Browser:

rs587779932

Molecular consequence:

• NM_000179.3:c.3232G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.2842G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2326G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2326G>C - missense variant - [Sequence Ontology: SO:0001583]