ClinVar

NM_014159.7(SETD2):c.1412G>A (p.Arg471Lys)

Gene:

SETD2:SET domain containing 2, histone lysine methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 47123224 (on Assembly GRCh38)
• Chr3: 47164714 (on Assembly GRCh37)

Preferred name:

NM_014159.7(SETD2):c.1412G>A (p.Arg471Lys)

HGVS:

• NC_000003.12:g.47123224C>T
• NG_032091.1:g.45754G>A
• NM_001349370.3:c.1280G>A
• NM_014159.7:c.1412G>AMANE SELECT
• NP_001336299.1:p.Arg427Lys
• NP_054878.5:p.Arg471Lys
• LRG_775t1:c.1412G>A
• LRG_775:g.45754G>A
• NC_000003.11:g.47164714C>T
• NM_014159.6:c.1412G>A
• NR_146158.3:n.1601G>A

This HGVS expression did not pass validation

Protein change:

R427K

Links:

dbSNP: rs191313431

NCBI 1000 Genomes Browser:

rs191313431

Molecular consequence:

• NM_001349370.3:c.1280G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014159.7:c.1412G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_146158.3:n.1601G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]