ClinVar

NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2p16.3

Genomic location:

• Chr2: 47806561 (on Assembly GRCh38)
• Chr2: 48033700 (on Assembly GRCh37)

Preferred name:

NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)

Other names:

p.R1304K:AGG>AAG

HGVS:

• NC_000002.12:g.47806561G>A
• NG_007111.1:g.28415G>A
• NG_008397.1:g.104115C>T
• NM_000179.3:c.3911G>AMANE SELECT
• NM_001281492.2:c.3521G>A
• NM_001281493.2:c.3005G>A
• NM_001281494.2:c.3005G>A
• NP_000170.1:p.Arg1304Lys
• NP_000170.1:p.Arg1304Lys
• NP_001268421.1:p.Arg1174Lys
• NP_001268422.1:p.Arg1002Lys
• NP_001268423.1:p.Arg1002Lys
• LRG_219t1:c.3911G>A
• LRG_219:g.28415G>A
• LRG_219p1:p.Arg1304Lys
• NC_000002.11:g.48033700G>A
• NM_000179.2:c.3911G>A
• p.R1304K

This HGVS expression did not pass validation

Protein change:

R1002K

Links:

dbSNP: rs34625968

NCBI 1000 Genomes Browser:

rs34625968

Molecular consequence:

• NM_000179.3:c.3911G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281492.2:c.3521G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281493.2:c.3005G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001281494.2:c.3005G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1