ClinVar

NM_000179.3(MSH6):c.3848T>C (p.Ile1283Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47806498 (on Assembly GRCh38)
• Chr2: 48033637 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3848T>C (p.Ile1283Thr)

HGVS:

• NC_000002.12:g.47806498T>C
• NG_007111.1:g.28352T>C
• NG_008397.1:g.104178A>G
• NM_000179.3:c.3848T>CMANE SELECT
• NM_001281492.2:c.3458T>C
• NM_001281493.2:c.2942T>C
• NM_001281494.2:c.2942T>C
• NP_000170.1:p.Ile1283Thr
• NP_000170.1:p.Ile1283Thr
• NP_001268421.1:p.Ile1153Thr
• NP_001268422.1:p.Ile981Thr
• NP_001268423.1:p.Ile981Thr
• LRG_219t1:c.3848T>C
• LRG_219:g.28352T>C
• LRG_219p1:p.Ile1283Thr
• NC_000002.11:g.48033637T>C
• NM_000179.2:c.3848T>C

This HGVS expression did not pass validation

Protein change:

I1153T

Links:

dbSNP: rs1180903149

NCBI 1000 Genomes Browser:

rs1180903149

Molecular consequence:

• NM_000179.3:c.3848T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3458T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2942T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2942T>C - missense variant - [Sequence Ontology: SO:0001583]