ClinVar

NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47800217 (on Assembly GRCh38)
• Chr2: 48027356 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn)

HGVS:

• NC_000002.12:g.47800217T>A
• NG_007111.1:g.22071T>A
• NM_000179.3:c.2234T>AMANE SELECT
• NM_001281492.2:c.1844T>A
• NM_001281493.2:c.1328T>A
• NM_001281494.2:c.1328T>A
• NP_000170.1:p.Ile745Asn
• NP_000170.1:p.Ile745Asn
• NP_001268421.1:p.Ile615Asn
• NP_001268422.1:p.Ile443Asn
• NP_001268423.1:p.Ile443Asn
• LRG_219t1:c.2234T>A
• LRG_219:g.22071T>A
• LRG_219p1:p.Ile745Asn
• NC_000002.11:g.48027356T>A
• NM_000179.2:c.2234T>A

This HGVS expression did not pass validation

Protein change:

I443N

Links:

dbSNP: rs1558664787

NCBI 1000 Genomes Browser:

rs1558664787

Molecular consequence:

• NM_000179.3:c.2234T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.1844T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.1328T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.1328T>A - missense variant - [Sequence Ontology: SO:0001583]