ClinVar

NM_000179.3(MSH6):c.3928G>A (p.Glu1310Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47806578 (on Assembly GRCh38)
• Chr2: 48033717 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3928G>A (p.Glu1310Lys)

HGVS:

• NC_000002.12:g.47806578G>A
• NG_007111.1:g.28432G>A
• NG_008397.1:g.104098C>T
• NM_000179.3:c.3928G>AMANE SELECT
• NM_001281492.2:c.3538G>A
• NM_001281493.2:c.3022G>A
• NM_001281494.2:c.3022G>A
• NP_000170.1:p.Glu1310Lys
• NP_000170.1:p.Glu1310Lys
• NP_001268421.1:p.Glu1180Lys
• NP_001268422.1:p.Glu1008Lys
• NP_001268423.1:p.Glu1008Lys
• LRG_219t1:c.3928G>A
• LRG_219:g.28432G>A
• LRG_219p1:p.Glu1310Lys
• NC_000002.11:g.48033717G>A
• NM_000179.2:c.3928G>A

This HGVS expression did not pass validation

Protein change:

E1008K

Links:

dbSNP: rs1194990135

NCBI 1000 Genomes Browser:

rs1194990135

Molecular consequence:

• NM_000179.3:c.3928G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3538G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.3022G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.3022G>A - missense variant - [Sequence Ontology: SO:0001583]