ClinVar

NM_000179.3(MSH6):c.1968C>G (p.Pro656=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47799951 (on Assembly GRCh38)
• Chr2: 48027090 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.1968C>G (p.Pro656=)

HGVS:

• NC_000002.12:g.47799951C>G
• NG_007111.1:g.21805C>G
• NM_000179.3:c.1968C>GMANE SELECT
• NM_001281492.2:c.1578C>G
• NM_001281493.2:c.1062C>G
• NM_001281494.2:c.1062C>G
• NP_000170.1:p.Pro656=
• NP_000170.1:p.Pro656=
• NP_001268421.1:p.Pro526=
• NP_001268422.1:p.Pro354=
• NP_001268423.1:p.Pro354=
• LRG_219t1:c.1968C>G
• LRG_219:g.21805C>G
• LRG_219p1:p.Pro656=
• NC_000002.11:g.48027090C>G
• NM_000179.2:c.1968C>G

This HGVS expression did not pass validation

Links:

dbSNP: rs1553413333

NCBI 1000 Genomes Browser:

rs1553413333

Molecular consequence:

• NM_000179.3:c.1968C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281492.2:c.1578C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281493.2:c.1062C>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001281494.2:c.1062C>G - synonymous variant - [Sequence Ontology: SO:0001819]