ClinVar

NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47803491 (on Assembly GRCh38)
• Chr2: 48030630 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)

Other names:

p.P1082S:CCG>TCG

HGVS:

• NC_000002.12:g.47803491C>T
• NG_007111.1:g.25345C>T
• NM_000179.3:c.3244C>TMANE SELECT
• NM_001281492.2:c.2854C>T
• NM_001281493.2:c.2338C>T
• NM_001281494.2:c.2338C>T
• NP_000170.1:p.Pro1082Ser
• NP_000170.1:p.Pro1082Ser
• NP_001268421.1:p.Pro952Ser
• NP_001268422.1:p.Pro780Ser
• NP_001268423.1:p.Pro780Ser
• LRG_219t1:c.3244C>T
• LRG_219:g.25345C>T
• LRG_219p1:p.Pro1082Ser
• NC_000002.11:g.48030630C>T
• NM_000179.2:c.3244C>T
• p.P1082S

This HGVS expression did not pass validation

Protein change:

P1082S

Links:

dbSNP: rs186240214

NCBI 1000 Genomes Browser:

rs186240214

Molecular consequence:

• NM_000179.3:c.3244C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.2854C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2338C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2338C>T - missense variant - [Sequence Ontology: SO:0001583]