ClinVar

NM_001377304.1(GFI1B):c.692G>T (p.Arg231Leu)

Gene:

GFI1B:growth factor independent 1B transcriptional repressor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.13

Genomic location:

• Chr9: 132989785 (on Assembly GRCh38)
• Chr9: 135865172 (on Assembly GRCh37)

Preferred name:

NM_001377304.1(GFI1B):c.692G>T (p.Arg231Leu)

HGVS:

• NC_000009.12:g.132989785G>T
• NG_034227.1:g.49241G>T
• NM_001135031.2:c.554G>T
• NM_001371908.1:c.758G>T
• NM_001377304.1:c.692G>TMANE SELECT
• NM_001377305.1:c.554G>T
• NM_004188.8:c.692G>T
• NP_001128503.1:p.Arg185Leu
• NP_001358837.1:p.Arg253Leu
• NP_001364233.1:p.Arg231Leu
• NP_001364234.1:p.Arg185Leu
• NP_004179.3:p.Arg231Leu
• NP_004179.3:p.Arg231Leu
• LRG_879t1:c.692G>T
• LRG_879:g.49241G>T
• LRG_879p1:p.Arg231Leu
• NC_000009.11:g.135865172G>T
• NM_004188.5:c.692G>T

This HGVS expression did not pass validation

Protein change:

R185L

Molecular consequence:

• NM_001135031.2:c.554G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001371908.1:c.758G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377304.1:c.692G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001377305.1:c.554G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004188.8:c.692G>T - missense variant - [Sequence Ontology: SO:0001583]