ClinVar

NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47798972 (on Assembly GRCh38)
• Chr2: 48026111 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)

HGVS:

• NC_000002.12:g.47798972C>A
• NG_007111.1:g.20826C>A
• NM_000179.3:c.989C>AMANE SELECT
• NM_001281492.2:c.599C>A
• NM_001281493.2:c.83C>A
• NM_001281494.2:c.83C>A
• NP_000170.1:p.Ser330Ter
• NP_000170.1:p.Ser330Ter
• NP_001268421.1:p.Ser200Ter
• NP_001268422.1:p.Ser28Ter
• NP_001268423.1:p.Ser28Ter
• LRG_219t1:c.989C>A
• LRG_219:g.20826C>A
• LRG_219p1:p.Ser330Ter
• NC_000002.11:g.48026111C>A
• NM_000179.2:c.989C>A
• p.S330*

This HGVS expression did not pass validation

Protein change:

S200*

Links:

dbSNP: rs786202848

NCBI 1000 Genomes Browser:

rs786202848

Molecular consequence:

• NM_000179.3:c.989C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001281492.2:c.599C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001281493.2:c.83C>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_001281494.2:c.83C>A - nonsense - [Sequence Ontology: SO:0001587]