ClinVar

NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47803467 (on Assembly GRCh38)
• Chr2: 48030606 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu)

HGVS:

• NC_000002.12:g.47803467A>T
• NG_007111.1:g.25321A>T
• NM_000179.3:c.3220A>TMANE SELECT
• NM_001281492.2:c.2830A>T
• NM_001281493.2:c.2314A>T
• NM_001281494.2:c.2314A>T
• NP_000170.1:p.Met1074Leu
• NP_000170.1:p.Met1074Leu
• NP_001268421.1:p.Met944Leu
• NP_001268422.1:p.Met772Leu
• NP_001268423.1:p.Met772Leu
• LRG_219t1:c.3220A>T
• LRG_219:g.25321A>T
• LRG_219p1:p.Met1074Leu
• NC_000002.11:g.48030606A>T
• NM_000179.2:c.3220A>T

This HGVS expression did not pass validation

Protein change:

M1074L

Links:

dbSNP: rs730881804

NCBI 1000 Genomes Browser:

rs730881804

Molecular consequence:

• NM_000179.3:c.3220A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.2830A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2314A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2314A>T - missense variant - [Sequence Ontology: SO:0001583]