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NM_000492.3(CFTR):c.3964-28G>A AND Cystic fibrosis

Germline classification:
not provided (1 submission)
Last evaluated:
Feb 1, 2013
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000047046.2

Allele description

NM_000492.3(CFTR):c.3964-28G>A

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.3964-28G>A
HGVS:
  • NC_000007.14:g.117664660G>A
  • NG_016465.4:g.203877G>A
  • NM_000492.3:c.3964-28G>A
  • NC_000007.13:g.117304714G>A
Links:
dbSNP: rs397508651
NCBI 1000 Genomes Browser:
rs397508651
Allele Frequency:
0.00007(A)
Molecular consequence:
  • NM_000492.3:c.3964-28G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000075059Invitae,
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.

Desgeorges M, Mégarbané A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M.

Hum Genet. 1997 Aug;100(2):279-83.

PubMed [citation]
PMID:
9254864

Details of each submission

From Invitae,, SCV000075059.2

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

Last Updated: Dec 7, 2017