ClinVar

NM_014159.7(SETD2):c.3484C>T (p.His1162Tyr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 47121152 (on Assembly GRCh38)
• Chr3: 47162642 (on Assembly GRCh37)

Preferred name:

NM_014159.7(SETD2):c.3484C>T (p.His1162Tyr)

HGVS:

• NC_000003.12:g.47121152G>A
• NG_032091.1:g.47826C>T
• NM_001349370.3:c.3352C>T
• NM_014159.7:c.3484C>TMANE SELECT
• NP_001336299.1:p.His1118Tyr
• NP_054878.5:p.His1162Tyr
• NP_054878.5:p.His1162Tyr
• LRG_775t1:c.3484C>T
• LRG_775:g.47826C>T
• LRG_775p1:p.His1162Tyr
• NC_000003.11:g.47162642G>A
• NM_014159.6:c.3484C>T
• NR_146158.3:n.3673C>T

This HGVS expression did not pass validation

Protein change:

H1118Y

Links:

dbSNP: rs137871492

NCBI 1000 Genomes Browser:

rs137871492

Molecular consequence:

• NM_001349370.3:c.3352C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_014159.7:c.3484C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_146158.3:n.3673C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]