ClinVar

NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47799722 (on Assembly GRCh38)
• Chr2: 48026861 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)

HGVS:

• NC_000002.12:g.47799722C>T
• NG_007111.1:g.21576C>T
• NM_000179.3:c.1739C>TMANE SELECT
• NM_001281492.2:c.1349C>T
• NM_001281493.2:c.833C>T
• NM_001281494.2:c.833C>T
• NP_000170.1:p.Ser580Leu
• NP_000170.1:p.Ser580Leu
• NP_001268421.1:p.Ser450Leu
• NP_001268422.1:p.Ser278Leu
• NP_001268423.1:p.Ser278Leu
• LRG_219t1:c.1739C>T
• LRG_219:g.21576C>T
• LRG_219p1:p.Ser580Leu
• NC_000002.11:g.48026861C>T
• NM_000179.2:c.1739C>T
• P52701:p.Ser580Leu
• p.S580L

This HGVS expression did not pass validation

Protein change:

S278L

Links:

UniProtKB: P52701#VAR_038038; dbSNP: rs41295270

NCBI 1000 Genomes Browser:

rs41295270

Molecular consequence:

• NM_000179.3:c.1739C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.1349C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.833C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.833C>T - missense variant - [Sequence Ontology: SO:0001583]