ClinVar

NM_000179.3(MSH6):c.3241T>C (p.Leu1081=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47803488 (on Assembly GRCh38)
• Chr2: 48030627 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3241T>C (p.Leu1081=)

HGVS:

• NC_000002.12:g.47803488T>C
• NG_007111.1:g.25342T>C
• NM_000179.3:c.3241T>CMANE SELECT
• NM_001281492.2:c.2851T>C
• NM_001281493.2:c.2335T>C
• NM_001281494.2:c.2335T>C
• NP_000170.1:p.Leu1081=
• NP_001268421.1:p.Leu951=
• NP_001268422.1:p.Leu779=
• NP_001268423.1:p.Leu779=
• LRG_219:g.25342T>C
• NC_000002.11:g.48030627T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs776291404

NCBI 1000 Genomes Browser:

rs776291404

Molecular consequence:

• NM_000179.3:c.3241T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.2851T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281493.2:c.2335T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281494.2:c.2335T>C - synonymous variant - [Sequence Ontology: SO:0001819]