NM_000492.3(CFTR):c.4280T>C (p.Ile1427Thr) AND Cystic fibrosis

Clinical significance:Likely pathogenic (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000029541.1

Allele description

NM_000492.3(CFTR):c.4280T>C (p.Ile1427Thr)

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.4280T>C (p.Ile1427Thr)
HGVS:
  • NC_000007.14:g.117666945T>C
  • NG_016465.4:g.206162T>C
  • NM_000492.3:c.4280T>C
  • NP_000483.3:p.Ile1427Thr
  • NC_000007.13:g.117306999T>C
Protein change:
I1427T
Links:
dbSNP: rs193922528
NCBI 1000 Genomes Browser:
rs193922528
Molecular consequence:
  • NM_000492.3:c.4280T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cystic fibrosis (CF)
Identifiers:
MedGen: C0010674; Orphanet: 586; OMIM: 219700

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052193Integrated Genetics/Laboratory Corporation of Americacriteria provided, single submitter
likely pathogenic
(Aug 18, 2011)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedliterature only

Details of each submission

From Integrated Genetics/Laboratory Corporation of America, SCV000052193.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided

Last Updated: Jul 7, 2018