ClinVar

NM_000179.3(MSH6):c.3221del (p.Met1074fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47803468 (on Assembly GRCh38)
• Chr2: 48030607 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3221del (p.Met1074fs)

HGVS:

• NC_000002.12:g.47803468del
• NG_007111.1:g.25322del
• NM_000179.3:c.3221delMANE SELECT
• NM_001281492.2:c.2831del
• NM_001281493.2:c.2315del
• NM_001281494.2:c.2315del
• NP_000170.1:p.Met1074fs
• NP_001268421.1:p.Met944fs
• NP_001268422.1:p.Met772fs
• NP_001268423.1:p.Met772fs
• LRG_219:g.25322del
• NC_000002.11:g.48030607del
• NM_000179.3:c.3221delTMANE SELECT

This HGVS expression did not pass validation

Protein change:

M772fs

Links:

dbSNP: rs267608090

NCBI 1000 Genomes Browser:

rs267608090

Molecular consequence:

• NM_000179.3:c.3221del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001281492.2:c.2831del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001281493.2:c.2315del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001281494.2:c.2315del - frameshift variant - [Sequence Ontology: SO:0001589]