NM_153704.6(TMEM67):c.25G>A (p.Val9Met) AND Joubert syndrome 1

Clinical significance:Benign (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000988093.1

Allele description [Variation Report for NM_153704.6(TMEM67):c.25G>A (p.Val9Met)]

NM_153704.6(TMEM67):c.25G>A (p.Val9Met)

Gene:
TMEM67:transmembrane protein 67 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.1
Genomic location:
Preferred name:
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
HGVS:
  • NC_000008.11:g.93754939G>A
  • NG_009190.1:g.5096G>A
  • NM_001142301.1:c.-180+30G>A
  • NM_153704.5:c.25G>A
  • NM_153704.6:c.25G>AMANE SELECT
  • NP_714915.3:p.Val9Met
  • NP_714915.3:p.Val9Met
  • LRG_688t1:c.25G>A
  • LRG_688t2:c.-180+30G>A
  • LRG_688:g.5096G>A
  • LRG_688p1:p.Val9Met
  • NC_000008.10:g.94767167G>A
  • NR_024522.2:n.46G>A
Protein change:
V9M
Links:
dbSNP: rs199961375
NCBI 1000 Genomes Browser:
rs199961375
Molecular consequence:
  • NM_001142301.1:c.-180+30G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_153704.5:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153704.6:c.25G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_024522.2:n.46G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Joubert syndrome 1 (JBTS1)
Synonyms:
Cerebellooculorenal syndrome 1
Identifiers:
MONDO: MONDO:0008944; MedGen: C4551568; OMIM: 213300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001137675Mendelicscriteria provided, single submitter
Benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001137675.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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