NM_000492.3(CFTR):c.862_869+1delTTAAGACAG

Variation ID: Help
54073
Review status: Help
(0/4) no assertion provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
not provided
Last evaluated:
Feb 1, 2013
Number of submission(s):
1
Condition(s):
Cystic fibrosis[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000492.3(CFTR):c.862_869+1delTTAAGACAG

Allele ID:
68740
Variant type:
Deletion
Cytogenetic location:
7q31.2
Genomic location:
  • Chr7: 117536666 - 117536674 (on Assembly GRCh38)
  • Chr7: 117176720 - 117176728 (on Assembly GRCh37)
HGVS:
  • NG_016465.4:g.75883_75891delTTAAGACAG
  • NM_000492.3:c.862_869+1delTTAAGACAG
  • NC_000007.14:g.117536666_117536674delTTAAGACAG (GRCh38)
  • NC_000007.13:g.117176720_117176728delTTAAGACAG (GRCh37)
Links:
dbSNP: 397508807
NCBI 1000 Genomes Browser:
rs397508807
Molecular consequence:
NM_000492.3:c.862_869+1delTTAAGACAG: splice donor variant [Sequence Ontology SO:0001575]

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
not provided
(Feb 1, 2013)
no assertion providedliterature onlygermlineInvitaeSCV000075286.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Invitaenot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Nov 2, 2017