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TFAP2A, 18-BP DEL/6-BP INS, NT828

Variation ID: Help
17941
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 1, 2009
Number of submission(s):
1
Condition(s):
Branchiooculofacial syndrome[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

TFAP2A, 18-BP DEL/6-BP INS, NT828

Allele ID:
32980
Variant type:
Indel
Cytogenetic location:
6p24
Other names:
  • 18-BP DEL/6-BP INS, NT828
Links:
OMIM: 107580.0005

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Mar 1, 2009)
no assertion criteria providedliterature onlygermlineOMIMSCV000039831.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017