ClinVar

NM_000179.3(MSH6):c.2045_2046del (p.Ser682fs)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47800024 - 47800025 (on Assembly GRCh38)
• Chr2: 48027163 - 48027164 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.2045_2046del (p.Ser682fs)

HGVS:

• NC_000002.12:g.47800024CT[2]
• NG_007111.1:g.21878CT[2]
• NM_000179.3:c.2045_2046delMANE SELECT
• NM_001281492.2:c.1655_1656del
• NM_001281493.2:c.1139_1140del
• NM_001281494.2:c.1139_1140del
• NP_000170.1:p.Ser682fs
• NP_001268421.1:p.Ser552fs
• NP_001268422.1:p.Ser380fs
• NP_001268423.1:p.Ser380fs
• LRG_219:g.21878CT[2]
• NC_000002.11:g.48027163CT[2]
• NC_000002.11:g.48027163_48027164del
• NM_000179.2:c.2045_2046delCT

This HGVS expression did not pass validation

Protein change:

S380fs

Links:

dbSNP: rs267608057

NCBI 1000 Genomes Browser:

rs267608057

Molecular consequence:

• NM_000179.3:c.2045_2046del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001281492.2:c.1655_1656del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001281493.2:c.1139_1140del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001281494.2:c.1139_1140del - frameshift variant - [Sequence Ontology: SO:0001589]