ClinVar

NM_000179.3(MSH6):c.3516_3519del (p.Arg1172fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47804986 - 47804989 (on Assembly GRCh38)
• Chr2: 48032125 - 48032128 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3516_3519del (p.Arg1172fs)

HGVS:

• NC_000002.12:g.47804987_47804990del
• NG_007111.1:g.26841_26844del
• NG_008397.1:g.105687_105690del
• NM_000179.3:c.3516_3519delMANE SELECT
• NM_001281492.2:c.3126_3129del
• NM_001281493.2:c.2610_2613del
• NM_001281494.2:c.2610_2613del
• NP_000170.1:p.Arg1172fs
• NP_001268421.1:p.Arg1042fs
• NP_001268422.1:p.Arg870fs
• NP_001268423.1:p.Arg870fs
• LRG_219t1:c.3516_3519del
• LRG_219:g.26841_26844del
• NC_000002.11:g.48032126_48032129del
• NM_000179.2:c.3516_3519delAGTG

This HGVS expression did not pass validation

Protein change:

R1042fs

Links:

dbSNP: rs267608099

NCBI 1000 Genomes Browser:

rs267608099

Molecular consequence:

• NM_000179.3:c.3516_3519del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001281492.2:c.3126_3129del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001281493.2:c.2610_2613del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_001281494.2:c.2610_2613del - frameshift variant - [Sequence Ontology: SO:0001589]