ClinVar

NM_052942.5(GBP5):c.1745C>T (p.Pro582Leu)

Gene:

GBP5:guanylate binding protein 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p22.2

Genomic location:

• Chr1: 89260720 (on Assembly GRCh38)
• Chr1: 89726403 (on Assembly GRCh37)

Preferred name:

NM_052942.5(GBP5):c.1745C>T (p.Pro582Leu)

HGVS:

• NC_000001.11:g.89260720G>A
• NG_027112.2:g.23397G>A
• NG_052816.1:g.17142C>T
• NM_001134486.4:c.1745C>T
• NM_001391920.1:c.1460C>T
• NM_052942.5:c.1745C>TMANE SELECT
• NP_001127958.1:p.Pro582Leu
• NP_001378849.1:p.Pro487Leu
• NP_443174.1:p.Pro582Leu
• NC_000001.10:g.89726403G>A
• NM_052942.3:c.1745C>T

This HGVS expression did not pass validation

Protein change:

P487L

Links:

dbSNP: rs386352305

NCBI 1000 Genomes Browser:

rs386352305

Molecular consequence:

• NM_001134486.4:c.1745C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001391920.1:c.1460C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_052942.5:c.1745C>T - missense variant - [Sequence Ontology: SO:0001583]