MITF, 3-BP DEL, ARG217DEL

Variation ID: Help
14272
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 1, 2008
Number of submission(s):
1
Condition(s):
Tietz syndrome[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

MITF, 3-BP DEL, ARG217DEL

Allele ID:
29311
Variant type:
Deletion
Cytogenetic location:
3p14.1-p12.3
Protein change:
R217del
Links:
OMIM: 156845.0003

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
(Jul 1, 2008)
no assertion criteria providedliterature onlygermlineOMIMSCV000035601.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Aug 22, 2016