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NM_001082538.3(TCTN1):c.1385dup (p.Trp463fs) AND Joubert syndrome 13

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 29, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001844404.3

Allele description [Variation Report for NM_001082538.3(TCTN1):c.1385dup (p.Trp463fs)]

NM_001082538.3(TCTN1):c.1385dup (p.Trp463fs)

Gene:
TCTN1:tectonic family member 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_001082538.3(TCTN1):c.1385dup (p.Trp463fs)
HGVS:
  • NC_000012.12:g.110645020dup
  • NG_030381.1:g.35994dup
  • NM_001082537.3:c.1385dup
  • NM_001082538.3:c.1385dupMANE SELECT
  • NM_001173975.3:c.1217dup
  • NM_001173976.2:c.1058dup
  • NM_001319680.2:c.1238dup
  • NM_001319681.2:c.851dup
  • NM_024549.6:c.1343dup
  • NP_001076006.1:p.Trp463fs
  • NP_001076007.1:p.Trp463fs
  • NP_001167446.1:p.Trp407fs
  • NP_001167447.1:p.Trp354fs
  • NP_001306609.1:p.Trp414fs
  • NP_001306610.1:p.Trp285fs
  • NP_078825.2:p.Trp449fs
  • NC_000012.11:g.111082825dup
  • NC_000012.11:g.111082825dupT
  • NR_135088.2:n.1568dup
Protein change:
W285fs
Links:
dbSNP: rs2136171586
NCBI 1000 Genomes Browser:
rs2136171586
Molecular consequence:
  • NM_001082537.3:c.1385dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001082538.3:c.1385dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173975.3:c.1217dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173976.2:c.1058dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319680.2:c.1238dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001319681.2:c.851dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024549.6:c.1343dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_135088.2:n.1568dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Joubert syndrome 13 (JBTS13)
Identifiers:
MONDO: MONDO:0013608; MedGen: C3280031; Orphanet: 475; OMIM: 614173

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001870527Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center
no assertion criteria provided
Pathogenic
(Apr 29, 2021) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV001870527.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 4, 2024