• under review

CFTR:c.3893G>C (p.Gly1298Ala) AND CFTR-related disorders

Clinical significance:variant of unknown significance (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:
RCV000047021.1

Allele description

CFTR:c.3893G>C (p.Gly1298Ala)

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Preferred name:
CFTR:c.3893G>C (p.Gly1298Ala)
HGVS:
  • NC_000007.13:g.117292915G>C
  • NG_016465.3:g.192078G>C
  • NM_000492.3:c.3893G>C
  • NP_000483.3:p.Gly1298Ala
  • NG_016465.1:g.177899G>C
Protein change:
G1298A
Links:
dbSNP: 193922522
NCBI 1000 Genomes Browser:
rs193922522
Molecular consequence:
  • NM_000492.3:c.3893G>C - missense - [Sequence Ontology: SO:0001583]

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
SCV000075034Invitae, Inc.classified by single submittervariant of unknown significance
(Feb 1, 2013)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Details of each submission

From Invitae, Inc., SCV000075034.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2013