ClinVar

NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)

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: 117587778 (on Assembly GRCh38)
• Chr7: 117227832 (on Assembly GRCh37)

Preferred name:

NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)

Other names:

p.Gly542Ter

HGVS:

• NC_000007.14:g.117587778G>T
• NG_016465.4:g.126995G>T
• NG_056131.3:g.733G>T
• NM_000492.4:c.1624G>TMANE SELECT
• NP_000483.3:p.Gly542Ter
• NP_000483.3:p.Gly542Ter
• LRG_663t1:c.1624G>T
• LRG_663:g.126995G>T
• LRG_663p1:p.Gly542Ter
• NC_000007.13:g.117227832G>T
• NG_016465.1:g.112816G>T
• NM_000492.3:c.1624G>T
• NM_000492.4:c.1624G>T
• NP_000483.3:p.Gly542*
• p.Gly542X

This HGVS expression did not pass validation

Protein change:

G542*; GLY542TER

Links:

Genetic Testing Registry (GTR): GTR000074114; Genetic Testing Registry (GTR): GTR000500233; OMIM: 602421.0009; OMIM: 602421.0095; dbSNP: rs113993959

NCBI 1000 Genomes Browser:

rs113993959

Molecular consequence:

• NM_000492.4:c.1624G>T - nonsense - [Sequence Ontology: SO:0001587]