ClinVar

NM_002017.5(FLI1):c.946G>T (p.Glu316Ter)

Gene:

FLI1:Fli-1 proto-oncogene, ETS transcription factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q24.3

Genomic location:

• Chr11: 128810575 (on Assembly GRCh38)
• Chr11: 128680470 (on Assembly GRCh37)

Preferred name:

NM_002017.5(FLI1):c.946G>T (p.Glu316Ter)

HGVS:

• NC_000011.10:g.128810575G>T
• NG_032912.1:g.129041G>T
• NM_001167681.3:c.847G>T
• NM_001271010.2:c.748G>T
• NM_001271012.2:c.367G>T
• NM_002017.5:c.946G>TMANE SELECT
• NP_001161153.1:p.Glu283Ter
• NP_001257939.1:p.Glu250Ter
• NP_001257941.1:p.Glu123Ter
• NP_002008.2:p.Glu316Ter
• LRG_646t1:c.847G>T
• LRG_646t2:c.748G>T
• LRG_646t3:c.367G>T
• LRG_646t4:c.946G>T
• LRG_646:g.129041G>T
• LRG_646p1:p.Glu283Ter
• LRG_646p2:p.Glu250Ter
• LRG_646p3:p.Glu123Ter
• LRG_646p4:p.Glu316Ter
• NC_000011.9:g.128680470G>T
• NM_002017.4:c.946G>T

This HGVS expression did not pass validation

Protein change:

E123*

Links:

dbSNP: rs2135925063

NCBI 1000 Genomes Browser:

rs2135925063

Molecular consequence:

• NM_001167681.3:c.847G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001271010.2:c.748G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001271012.2:c.367G>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_002017.5:c.946G>T - nonsense - [Sequence Ontology: SO:0001587]