• under review

CFTR:c.442delA (p.Ile148Leufs) AND CFTR-related disorders

Clinical significance:pathogenic (Last evaluated: Feb 1, 2013)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
under review
Accession:
RCV000047136.1

Allele description

CFTR:c.442delA (p.Ile148Leufs)

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
7q31.2
Preferred name:
CFTR:c.442delA (p.Ile148Leufs)
HGVS:
  • NC_000007.13:g.117171121delA
  • NG_016465.3:g.70284delA
  • NM_000492.3:c.442delA
  • NP_000483.3:p.Ile148Leufs
Links:
dbSNP: 121908770
NCBI 1000 Genomes Browser:
rs121908770
Molecular consequence:
  • NM_000492.3:c.442delA - frameshift - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
CFTR-related disorders
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000075149Invitae, Inc.classified by single submitterpathogenic
(Feb 1, 2013)
germlinecuration

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Castellani C, Cuppens H, Macek M Jr, Cassiman JJ, Kerem E, Durie P, Tullis E, Assael BM, Bombieri C, Brown A, Casals T, Claustres M, Cutting GR, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, et al.

J Cyst Fibros. 2008 May;7(3):179-96. doi: 10.1016/j.jcf.2008.03.009. Review.

PubMed [citation]
PMID:
18456578
PMCID:
PMC2810954

Details of each submission

From Invitae, Inc., SCV000075149.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 4, 2013