FAN1, TRP707TER

Variation ID: Help
37094
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 8, 2012
Number of submission(s):
1
Condition(s):
Interstitial nephritis, karyomegalic[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

FAN1, TRP707TER

Allele ID:
45769
Variant type:
single nucleotide variant
Cytogenetic location:
15q13.2-q13.3
Protein change:
W707*
Links:
OMIM: 613534.0001

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
(Jul 8, 2012)
no assertion criteria providedliterature onlygermlineOMIMSCV000053402.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017