ClinVar

NM_000179.3(MSH6):c.2079del (p.Lys693fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47800057 (on Assembly GRCh38)
• Chr2: 48027196 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.2079del (p.Lys693fs)

HGVS:

• NC_000002.12:g.47800062del
• NG_007111.1:g.21916del
• NM_000179.2:c.2079del
• NM_000179.3:c.2079delMANE SELECT
• NM_001281492.2:c.1689del
• NM_001281493.2:c.1173del
• NM_001281494.2:c.1173del
• NP_000170.1:p.Lys693fs
• NP_001268421.1:p.Lys563fs
• NP_001268422.1:p.Lys391fs
• NP_001268423.1:p.Lys391fs
• LRG_219t1:c.2079del
• LRG_219:g.21916del
• NC_000002.11:g.48027196del
• NC_000002.11:g.48027201del
• NM_000179.2:c.2079delA
• NM_000179.3:c.2079delAMANE SELECT

This HGVS expression did not pass validation

Protein change:

K391fs

Links:

dbSNP: rs267608083

NCBI 1000 Genomes Browser:

rs267608083

Molecular consequence:

• NM_000179.3:c.2079del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001281492.2:c.1689del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001281493.2:c.1173del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001281494.2:c.1173del - frameshift variant - [Sequence Ontology: SO:0001589]