ClinVar

NM_000179.3(MSH6):c.3613A>G (p.Thr1205Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47805674 (on Assembly GRCh38)
• Chr2: 48032813 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3613A>G (p.Thr1205Ala)

HGVS:

• NC_000002.12:g.47805674A>G
• NG_007111.1:g.27528A>G
• NG_008397.1:g.105002T>C
• NM_000179.3:c.3613A>GMANE SELECT
• NM_001281492.2:c.3223A>G
• NM_001281493.2:c.2707A>G
• NM_001281494.2:c.2707A>G
• NP_000170.1:p.Thr1205Ala
• NP_000170.1:p.Thr1205Ala
• NP_001268421.1:p.Thr1075Ala
• NP_001268422.1:p.Thr903Ala
• NP_001268423.1:p.Thr903Ala
• LRG_219t1:c.3613A>G
• LRG_219:g.27528A>G
• LRG_219p1:p.Thr1205Ala
• NC_000002.11:g.48032813A>G
• NM_000179.2:c.3613A>G

This HGVS expression did not pass validation

Protein change:

T1075A

Links:

dbSNP: rs1064797252

NCBI 1000 Genomes Browser:

rs1064797252

Molecular consequence:

• NM_000179.3:c.3613A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3223A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.2707A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.2707A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1