NM_000492.3(CFTR):c.959T>A (p.Leu320Ter)

Variation ID: Help
54092
Review status: Help
(0/4) no assertion provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
not provided
Last evaluated:
Feb 1, 2013
Number of submission(s):
1
Condition(s):
Cystic fibrosis[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000492.3(CFTR):c.959T>A (p.Leu320Ter)

Allele ID:
68759
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
  • Chr7: 117540189 (on Assembly GRCh38)
  • Chr7: 117180243 (on Assembly GRCh37)
Protein change:
L320*
HGVS:
  • NG_016465.4:g.79406T>A
  • NM_000492.3:c.959T>A
  • NC_000007.14:g.117540189T>A (GRCh38)
  • NP_000483.3:p.Leu320Ter
  • NC_000007.13:g.117180243T>A (GRCh37)
Links:
dbSNP: 397508820
NCBI 1000 Genomes Browser:
rs397508820
Molecular consequence:
NM_000492.3:c.959T>A: nonsense [Sequence Ontology SO:0001587]

1 Affected gene

Variant frequency in dbGaP Help

NM_000492.3(CFTR):c.959T>A (p.Leu320Ter)

GRCh37 Chr7:117180243
Called variantsPotential variants
Sample countno data0 of 40851

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
not provided
(Feb 1, 2013)
no assertion providedliterature onlygermlineInvitaeSCV000075310.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Invitaenot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jul 1, 2016