• replaced

NM_000492.3(CFTR):c.744-11_744-8delTTGA AND not specified

Clinical significance:Benign (Last evaluated: Jan 31, 2007)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000036520.1

Allele description

NM_000492.3(CFTR):c.744-11_744-8delTTGA

Gene:
CFTR:cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_000492.3(CFTR):c.744-11_744-8delTTGA
HGVS:
  • NC_000007.14:g.117536537_117536540delTTGA
  • NG_016465.3:g.75754_75757delTTGA
  • NM_000492.3:c.744-11_744-8delTTGA
  • NC_000007.13:g.117176591_117176594delTTGA
  • c.744-11_744-8delTTGA
Links:
dbSNP: 1805176
NCBI 1000 Genomes Browser:
rs1805176
Molecular consequence:
  • NM_000492.3:c.744-11_744-8delTTGA - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000060175Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicineclassified by single submitterno known pathogenicity
(Jan 31, 2007)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000060175.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providedassert pathogenicitynot providednot providednot providednot provided

Last Updated: Dec 20, 2014