ClinVar

NM_000179.3(MSH6):c.926C>T (p.Ser309Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47798909 (on Assembly GRCh38)
• Chr2: 48026048 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.926C>T (p.Ser309Phe)

HGVS:

• NC_000002.12:g.47798909C>T
• NG_007111.1:g.20763C>T
• NM_000179.3:c.926C>TMANE SELECT
• NM_001281492.2:c.536C>T
• NM_001281493.2:c.20C>T
• NM_001281494.2:c.20C>T
• NP_000170.1:p.Ser309Phe
• NP_000170.1:p.Ser309Phe
• NP_001268421.1:p.Ser179Phe
• NP_001268422.1:p.Ser7Phe
• NP_001268423.1:p.Ser7Phe
• LRG_219t1:c.926C>T
• LRG_219:g.20763C>T
• LRG_219p1:p.Ser309Phe
• NC_000002.11:g.48026048C>T
• NM_000179.2:c.926C>T

This HGVS expression did not pass validation

Protein change:

S179F

Links:

dbSNP: rs544222338

NCBI 1000 Genomes Browser:

rs544222338

Molecular consequence:

• NM_000179.3:c.926C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.536C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]