ClinVar

NM_000179.3(MSH6):c.3526A>C (p.Arg1176=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47804997 (on Assembly GRCh38)
• Chr2: 48032136 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3526A>C (p.Arg1176=)

HGVS:

• NC_000002.12:g.47804997A>C
• NG_007111.1:g.26851A>C
• NG_008397.1:g.105679T>G
• NM_000179.3:c.3526A>CMANE SELECT
• NM_001281492.2:c.3136A>C
• NM_001281493.2:c.2620A>C
• NM_001281494.2:c.2620A>C
• NP_000170.1:p.Arg1176=
• NP_000170.1:p.Arg1176=
• NP_001268421.1:p.Arg1046=
• NP_001268422.1:p.Arg874=
• NP_001268423.1:p.Arg874=
• LRG_219t1:c.3526A>C
• LRG_219:g.26851A>C
• LRG_219p1:p.Arg1176=
• NC_000002.11:g.48032136A>C
• NM_000179.2:c.3526A>C
• p.R1176R

This HGVS expression did not pass validation

Links:

dbSNP: rs786203968

NCBI 1000 Genomes Browser:

rs786203968

Molecular consequence:

• NM_000179.3:c.3526A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.3136A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281493.2:c.2620A>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281494.2:c.2620A>C - synonymous variant - [Sequence Ontology: SO:0001819]