ClinVar

NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)

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: 117587805 (on Assembly GRCh38)
• Chr7: 117227859 (on Assembly GRCh37)

Preferred name:

NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)

HGVS:

• NC_000007.14:g.117587805G>A
• NG_016465.4:g.127022G>A
• NG_056131.3:g.760G>A
• NM_000492.4:c.1651G>AMANE SELECT
• NP_000483.3:p.Gly551Ser
• NP_000483.3:p.Gly551Ser
• LRG_663t1:c.1651G>A
• LRG_663:g.127022G>A
• LRG_663p1:p.Gly551Ser
• NC_000007.13:g.117227859G>A
• NG_056131.1:g.129G>A
• NM_000492.3:c.1651G>A
• P13569:p.Gly551Ser

This HGVS expression did not pass validation

Protein change:

G551S; GLY551SER

Links:

PharmGKB: 1183960780; PharmGKB: 1183960780PA165950341; PharmGKB Clinical Annotation: 1183960780; UniProtKB: P13569#VAR_000180; OMIM: 602421.0037; dbSNP: rs121909013

NCBI 1000 Genomes Browser:

rs121909013

Molecular consequence:

• NM_000492.4:c.1651G>A - missense variant - [Sequence Ontology: SO:0001583]