ClinVar

NM_014159.7(SETD2):c.4193T>C (p.Ile1398Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

• Chr3: 47120443 (on Assembly GRCh38)
• Chr3: 47161933 (on Assembly GRCh37)

Preferred name:

NM_014159.7(SETD2):c.4193T>C (p.Ile1398Thr)

HGVS:

• NC_000003.12:g.47120443A>G
• NG_032091.1:g.48535T>C
• NM_001349370.3:c.4061T>C
• NM_014159.7:c.4193T>CMANE SELECT
• NP_001336299.1:p.Ile1354Thr
• NP_054878.5:p.Ile1398Thr
• NP_054878.5:p.Ile1398Thr
• LRG_775t1:c.4193T>C
• LRG_775:g.48535T>C
• LRG_775p1:p.Ile1398Thr
• NC_000003.11:g.47161933A>G
• NM_014159.6:c.4193T>C
• NR_146158.3:n.4382T>C

This HGVS expression did not pass validation

Protein change:

I1354T

Links:

dbSNP: rs145732065

NCBI 1000 Genomes Browser:

rs145732065

Molecular consequence:

• NM_001349370.3:c.4061T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_014159.7:c.4193T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_146158.3:n.4382T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2