ClinVar

NM_003011.4(SET):c.561G>C (p.Glu187Asp)

Gene:

SET:SET nuclear proto-oncogene [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 128693706 (on Assembly GRCh38)
• Chr9: 131455985 (on Assembly GRCh37)

Preferred name:

NM_003011.4(SET):c.561G>C (p.Glu187Asp)

HGVS:

• NC_000009.12:g.128693706G>C
• NG_030356.1:g.15052G>C
• NM_001122821.2:c.600G>C
• NM_001248000.2:c.534G>C
• NM_001248001.2:c.528G>C
• NM_001374326.1:c.600G>C
• NM_003011.4:c.561G>CMANE SELECT
• NP_001116293.1:p.Glu200Asp
• NP_001234929.1:p.Glu178Asp
• NP_001234930.1:p.Glu176Asp
• NP_001361255.1:p.Glu200Asp
• NP_003002.2:p.Glu187Asp
• NC_000009.11:g.131455985G>C
• NM_001122821.1:c.600G>C

This HGVS expression did not pass validation

Protein change:

E176D

Molecular consequence:

• NM_001122821.2:c.600G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001248000.2:c.534G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001248001.2:c.528G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374326.1:c.600G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_003011.4:c.561G>C - missense variant - [Sequence Ontology: SO:0001583]