ClinVar

NM_001003722.2(GLE1):c.1000G>A (p.Glu334Lys)

Gene:

GLE1:GLE1 RNA export mediator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 128525294 (on Assembly GRCh38)
• Chr9: 131287573 (on Assembly GRCh37)

Preferred name:

NM_001003722.2(GLE1):c.1000G>A (p.Glu334Lys)

HGVS:

• NC_000009.12:g.128525294G>A
• NG_012073.1:g.25603G>A
• NM_001003722.2:c.1000G>AMANE SELECT
• NM_001499.2:c.1000G>A
• NP_001003722.1:p.Glu334Lys
• NP_001003722.1:p.Glu334Lys
• NP_001490.1:p.Glu334Lys
• LRG_484t1:c.1000G>A
• LRG_484t2:c.1000G>A
• LRG_484:g.25603G>A
• LRG_484p1:p.Glu334Lys
• LRG_484p2:p.Glu334Lys
• NC_000009.11:g.131287573G>A
• NM_001003722.1:c.1000G>A

This HGVS expression did not pass validation

Protein change:

E334K

Links:

dbSNP: rs138310419

NCBI 1000 Genomes Browser:

rs138310419

Molecular consequence:

• NM_001003722.2:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001499.2:c.1000G>A - missense variant - [Sequence Ontology: SO:0001583]