ClinVar

NM_000179.3(MSH6):c.4054A>C (p.Lys1352Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47806831 (on Assembly GRCh38)
• Chr2: 48033970 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.4054A>C (p.Lys1352Gln)

HGVS:

• NC_000002.12:g.47806831A>C
• NG_007111.1:g.28685A>C
• NG_008397.1:g.103845T>G
• NM_000179.3:c.4054A>CMANE SELECT
• NM_001281492.2:c.3664A>C
• NM_001281493.2:c.3148A>C
• NM_001281494.2:c.3148A>C
• NP_000170.1:p.Lys1352Gln
• NP_000170.1:p.Lys1352Gln
• NP_001268421.1:p.Lys1222Gln
• NP_001268422.1:p.Lys1050Gln
• NP_001268423.1:p.Lys1050Gln
• LRG_219t1:c.4054A>C
• LRG_219:g.28685A>C
• LRG_219p1:p.Lys1352Gln
• NC_000002.11:g.48033970A>C
• NM_000179.2:c.4054A>C
• p.K1352Q

This HGVS expression did not pass validation

Protein change:

K1050Q

Links:

dbSNP: rs587782309

NCBI 1000 Genomes Browser:

rs587782309

Molecular consequence:

• NM_000179.3:c.4054A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3664A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.3148A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.3148A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1