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NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) AND Familial aplasia of the vermis

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 9, 2016
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:
RCV000851200.1

Allele description [Variation Report for NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)]

NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)

Gene:
WDPCP:WD repeat containing planar cell polarity effector [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p15
Genomic location:
Preferred name:
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly)
HGVS:
  • NC_000002.12:g.63404389T>C
  • NG_028144.2:g.441437A>G
  • NM_001042692.3:c.617A>G
  • NM_001354044.2:c.1022A>G
  • NM_001354045.2:c.1094A>G
  • NM_015910.7:c.1094A>GMANE SELECT
  • NP_001036157.1:p.Glu206Gly
  • NP_001340973.1:p.Glu341Gly
  • NP_001340974.1:p.Glu365Gly
  • NP_056994.3:p.Glu365Gly
  • NC_000002.11:g.63631524T>C
  • NM_015910.5:c.1094A>G
  • NR_122106.2:n.741A>G
  • NR_148704.2:n.1552A>G
  • NR_148705.2:n.1300A>G
Protein change:
E206G
Links:
dbSNP: rs201662623
NCBI 1000 Genomes Browser:
rs201662623
Molecular consequence:
  • NM_001042692.3:c.617A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354044.2:c.1022A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354045.2:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015910.7:c.1094A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_122106.2:n.741A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148704.2:n.1552A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148705.2:n.1300A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Familial aplasia of the vermis
Synonyms:
CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000993451University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Uncertain significance
(May 9, 2016) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

Citations

PubMed

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.

Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ; University of Washington Center for Mendelian Genomics., et al.

Nat Genet. 2016 Jun;48(6):648-56. doi: 10.1038/ng.3558. Epub 2016 May 9. Erratum in: Nat Genet. 2016 Jul 27;48(8):970. doi: 10.1038/ng0816-970b.

PubMed [citation]
PMID:
27158779
PMCID:
PMC4978421

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV000993451.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2024