ClinVar

NM_015559.3(SETBP1):c.3962G>T (p.Arg1321Leu)

Gene:

SETBP1:SET binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.3

Genomic location:

• Chr18: 44953302 (on Assembly GRCh38)
• Chr18: 42533267 (on Assembly GRCh37)

Preferred name:

NM_015559.3(SETBP1):c.3962G>T (p.Arg1321Leu)

HGVS:

• NC_000018.10:g.44953302G>T
• NG_027527.2:g.278130G>T
• NM_001379141.1:c.3962G>T
• NM_001379142.1:c.3962G>T
• NM_015559.3:c.3962G>TMANE SELECT
• NP_001366070.1:p.Arg1321Leu
• NP_001366071.1:p.Arg1321Leu
• NP_056374.2:p.Arg1321Leu
• LRG_1150t1:c.3962G>T
• LRG_1150:g.278130G>T
• LRG_1150p1:p.Arg1321Leu
• NC_000018.9:g.42533267G>T

This HGVS expression did not pass validation

Protein change:

R1321L

Links:

dbSNP: rs149638556

NCBI 1000 Genomes Browser:

rs149638556

Molecular consequence:

• NM_001379141.1:c.3962G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379142.1:c.3962G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015559.3:c.3962G>T - missense variant - [Sequence Ontology: SO:0001583]