ClinVar

NM_000179.3(MSH6):c.2561_2563delAGA

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47800537 - 47800539 (on Assembly GRCh38)
• Chr2: 48027676 - 48027678 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.2561_2563delAGA

HGVS:

• NC_000002.12:g.47800538_47800540AGA[2]
• NG_007111.1:g.22392_22394AGA[2]
• NM_000179.3:c.2561_2563delAGAMANE SELECT
• NM_001281492.1:c.2165_2167AGA[2]
• NM_001281493.1:c.1649_1651AGA[2]
• NM_001281494.1:c.1649_1651AGA[2]
• NP_000170.1:p.Lys854del
• NP_001268421.1:p.Lys724del
• NP_001268422.1:p.Lys552del
• NP_001268423.1:p.Lys552del
• LRG_219t1:c.2555_2557AGA[2]
• LRG_219t1:c.2561_2563del
• LRG_219:g.22392_22394AGA[2]
• LRG_219p1:p.Lys854del
• NC_000002.11:g.48027677_48027679AGA[2]
• NM_000179.2:c.2555_2557AGA[2]
• NM_000179.2:c.2561_2563delAGA
• p.K854del

This HGVS expression did not pass validation

Protein change:

K552del

Links:

dbSNP: rs587782858

NCBI 1000 Genomes Browser:

rs587782858

Molecular consequence:

• NM_001281492.1:c.2165_2167AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_001281493.1:c.1649_1651AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_001281494.1:c.1649_1651AGA[2] - inframe_deletion - [Sequence Ontology: SO:0001822]