ClinVar

NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
LOC111674475:CFTR intron 11 enhancer [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

• Chr7: 117587806 (on Assembly GRCh38)
• Chr7: 117227860 (on Assembly GRCh37)

Preferred name:

NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)

HGVS:

• NC_000007.14:g.117587806G>A
• NG_016465.4:g.127023G>A
• NG_056131.3:g.761G>A
• NM_000492.4:c.1652G>AMANE SELECT
• NP_000483.3:p.Gly551Asp
• NP_000483.3:p.Gly551Asp
• LRG_663t1:c.1652G>A
• LRG_663:g.127023G>A
• LRG_663p1:p.Gly551Asp
• NC_000007.13:g.117227860G>A
• NG_056131.1:g.130G>A
• NM_000492.3:c.1652G>A
• NP_000483.3:p.Glu551Asp
• P13569:p.Gly551Asp

This HGVS expression did not pass validation

Protein change:

G551D; GLY551ASP

Links:

Genetic Testing Registry (GTR): GTR000074114; Genetic Testing Registry (GTR): GTR000257096; Genetic Testing Registry (GTR): GTR000500233; PharmGKB: 981755803; PharmGKB: 981755803PA165950341; PharmGKB Clinical Annotation: 981755803; UniProtKB: P13569#VAR_000179; OMIM: 602421.0013; dbSNP: rs75527207

NCBI 1000 Genomes Browser:

rs75527207

Molecular consequence:

• NM_000492.4:c.1652G>A - missense variant - [Sequence Ontology: SO:0001583]