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NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter) AND Joubert syndrome 23

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000201703.1

Allele description [Variation Report for NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter)]

NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter)

Gene:
KIAA0586:KIAA0586 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q23.1
Genomic location:
Preferred name:
NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter)
HGVS:
  • NC_000014.9:g.58444011C>T
  • NG_051335.2:g.21627C>T
  • NM_001244189.2:c.802C>T
  • NM_001244190.2:c.598C>T
  • NM_001244191.2:c.388C>T
  • NM_001244192.2:c.511C>T
  • NM_001244193.2:c.223C>T
  • NM_001329943.3:c.643C>TMANE SELECT
  • NM_001329944.2:c.643C>T
  • NM_001329945.2:c.388C>T
  • NM_001329946.2:c.643C>T
  • NM_001329947.2:c.643C>T
  • NM_001364700.1:c.388C>T
  • NM_001364701.2:c.388C>T
  • NM_014749.5:c.643C>T
  • NP_001231118.1:p.Gln268Ter
  • NP_001231119.1:p.Gln200Ter
  • NP_001231120.1:p.Gln130Ter
  • NP_001231121.1:p.Gln171Ter
  • NP_001231122.1:p.Gln75Ter
  • NP_001316872.1:p.Gln215Ter
  • NP_001316873.1:p.Gln215Ter
  • NP_001316874.1:p.Gln130Ter
  • NP_001316875.1:p.Gln215Ter
  • NP_001316876.1:p.Gln215Ter
  • NP_001351629.1:p.Gln130Ter
  • NP_001351630.1:p.Gln130Ter
  • NP_055564.3:p.Gln215Ter
  • LRG_1096t1:c.802C>T
  • LRG_1096t2:c.643C>T
  • LRG_1096t3:c.643C>T
  • LRG_1096:g.21627C>T
  • LRG_1096p1:p.Gln268Ter
  • LRG_1096p2:p.Gln215Ter
  • LRG_1096p3:p.Gln215Ter
  • NC_000014.8:g.58910729C>T
  • NM_001244189.1:c.802C>T
Protein change:
Q130*
Links:
dbSNP: rs201097695
NCBI 1000 Genomes Browser:
rs201097695
Molecular consequence:
  • NM_001244189.2:c.802C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001244190.2:c.598C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001244191.2:c.388C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001244192.2:c.511C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001244193.2:c.223C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001329943.3:c.643C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001329944.2:c.643C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001329945.2:c.388C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001329946.2:c.643C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001329947.2:c.643C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001364700.1:c.388C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001364701.2:c.388C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014749.5:c.643C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Joubert syndrome 23 (JBTS23)
Identifiers:
MONDO: MONDO:0014664; MedGen: C4084822; Orphanet: 475; OMIM: 616490

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000256436UW Hindbrain Malformation Research Program, University of Washington

See additional submitters

criteria provided, single submitter

(Submitter's publication)		Pathogenic
(Sep 1, 2015) 		unknownresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

KIAA0586 is Mutated in Joubert Syndrome.

Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenço C, Arslan M; University of Washington Center for Mendelian Genomics., Shendure J, Doherty D.

Hum Mutat. 2015 Sep;36(9):831-5. doi: 10.1002/humu.22821. Epub 2015 Jul 2.

PubMed [citation]
PMID:
26096313
PMCID:
PMC4537327

Details of each submission

From UW Hindbrain Malformation Research Program, University of Washington, SCV000256436.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024