• under review

CFTR:c.3907A>C (p.Asn1303His) 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:
RCV000047024.1

Allele description

CFTR:c.3907A>C (p.Asn1303His)

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.3907A>C (p.Asn1303His)
HGVS:
  • NC_000007.13:g.117292929A>C
  • NG_016465.3:g.192092A>C
  • NM_000492.3:c.3907A>C
  • NG_016465.1:g.177913A>C
  • NP_000483.3:p.Asn1303His
Protein change:
N1303H; ASN1303HIS
Links:
OMIM: 602421.0114; dbSNP: 121909042
NCBI 1000 Genomes Browser:
rs121909042
Molecular consequence:
  • NM_000492.3:c.3907A>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
SCV000075037Invitae, Inc.classified by single submittervariant of unknown significance
(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

Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations.

Claustres M, Gerrard B, Kjellberg P, Desgeorges M, Demaille J, Dean M.

Hum Mutat. 1992;1(4):310-3.

PubMed [citation]
PMID:
1284537

Details of each submission

From Invitae, Inc., SCV000075037.1

#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