ClinVar

NM_000179.3(MSH6):c.2394C>A (p.Leu798=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47800377 (on Assembly GRCh38)
• Chr2: 48027516 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.2394C>A (p.Leu798=)

HGVS:

• NC_000002.12:g.47800377C>A
• NG_007111.1:g.22231C>A
• NM_000179.3:c.2394C>AMANE SELECT
• NM_001281492.2:c.2004C>A
• NM_001281493.2:c.1488C>A
• NM_001281494.2:c.1488C>A
• NP_000170.1:p.Leu798=
• NP_000170.1:p.Leu798=
• NP_001268421.1:p.Leu668=
• NP_001268422.1:p.Leu496=
• NP_001268423.1:p.Leu496=
• LRG_219t1:c.2394C>A
• LRG_219:g.22231C>A
• LRG_219p1:p.Leu798=
• NC_000002.11:g.48027516C>A
• NM_000179.2:c.2394C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1553413752

NCBI 1000 Genomes Browser:

rs1553413752

Molecular consequence:

• NM_000179.3:c.2394C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.2004C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281493.2:c.1488C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281494.2:c.1488C>A - synonymous variant - [Sequence Ontology: SO:0001819]