ClinVar

NM_014712.3(SETD1A):c.757C>T (p.Arg253Ter)

Gene:

SETD1A:SET domain containing 1A, histone lysine methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p11.2

Genomic location:

• Chr16: 30964211 (on Assembly GRCh38)
• Chr16: 30975532 (on Assembly GRCh37)

Preferred name:

NM_014712.3(SETD1A):c.757C>T (p.Arg253Ter)

HGVS:

• NC_000016.10:g.30964211C>T
• NG_052948.1:g.11918C>T
• NM_014712.3:c.757C>TMANE SELECT
• NP_055527.1:p.Arg253Ter
• NC_000016.9:g.30975532C>T
• NM_014712.2:c.757C>T

This HGVS expression did not pass validation

Protein change:

R253*

Links:

dbSNP: rs2056099559

NCBI 1000 Genomes Browser:

rs2056099559

Molecular consequence:

• NM_014712.3:c.757C>T - nonsense - [Sequence Ontology: SO:0001587]