ClinVar

NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47806284 (on Assembly GRCh38)
• Chr2: 48033423 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)

Other names:

p.T1243S:ACA>TCA

HGVS:

• NC_000002.12:g.47806284A>T
• NG_007111.1:g.28138A>T
• NG_008397.1:g.104392T>A
• NM_000179.3:c.3727A>TMANE SELECT
• NM_001281492.2:c.3337A>T
• NM_001281493.2:c.2821A>T
• NM_001281494.2:c.2821A>T
• NP_000170.1:p.Thr1243Ser
• NP_000170.1:p.Thr1243Ser
• NP_001268421.1:p.Thr1113Ser
• NP_001268422.1:p.Thr941Ser
• NP_001268423.1:p.Thr941Ser
• LRG_219t1:c.3727A>T
• LRG_219:g.28138A>T
• LRG_219p1:p.Thr1243Ser
• NC_000002.11:g.48033423A>T
• NM_000179.2:c.3727A>T
• p.T1243S

This HGVS expression did not pass validation

Protein change:

T1113S

Links:

dbSNP: rs147453999

NCBI 1000 Genomes Browser:

rs147453999

Molecular consequence:

• NM_000179.3:c.3727A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3337A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2821A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2821A>T - missense variant - [Sequence Ontology: SO:0001583]