ClinVar

NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)

Genes:

LOC129936665:ATAC-STARR-seq lymphoblastoid silent region 14306 [Gene]
SETD2:SET domain containing 2, histone lysine methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 47163906 (on Assembly GRCh38)
• Chr3: 47205396 (on Assembly GRCh37)

Preferred name:

NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)

HGVS:

• NC_000003.12:g.47163906G>A
• NG_032091.1:g.5072C>T
• NM_001349370.3:c.-98C>T
• NM_014159.7:c.19C>TMANE SELECT
• NP_054878.5:p.Gln7Ter
• NP_054878.5:p.Gln7Ter
• LRG_775t1:c.19C>T
• LRG_775:g.5072C>T
• LRG_775p1:p.Gln7Ter
• NC_000003.11:g.47205396G>A
• NM_014159.6:c.19C>T
• NR_146158.3:n.208C>T

This HGVS expression did not pass validation

Protein change:

Q7*

Links:

dbSNP: rs541943893

NCBI 1000 Genomes Browser:

rs541943893

Molecular consequence:

• NM_001349370.3:c.-98C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_146158.3:n.208C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_014159.7:c.19C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1