NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001310635.1

Allele description [Variation Report for NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)]

NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)

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.2498T>C (p.Ile833Thr)
HGVS:
  • NC_000008.11:g.93808898T>C
  • NG_009190.1:g.59055T>C
  • NM_001142301.1:c.2255T>C
  • NM_153704.5:c.2498T>C
  • NM_153704.6:c.2498T>CMANE SELECT
  • NP_001135773.1:p.Ile752Thr
  • NP_714915.3:p.Ile833Thr
  • NP_714915.3:p.Ile833Thr
  • LRG_688t1:c.2498T>C
  • LRG_688t2:c.2255T>C
  • LRG_688:g.59055T>C
  • LRG_688p1:p.Ile833Thr
  • LRG_688p2:p.Ile752Thr
  • NC_000008.10:g.94821126T>C
  • NR_024522.2:n.2519T>C
  • Q5HYA8:p.Ile833Thr
Protein change:
I752T; ILE833THR
Links:
UniProtKB: Q5HYA8#VAR_063801; OMIM: 609884.0013; dbSNP: rs267607119
NCBI 1000 Genomes Browser:
rs267607119
Molecular consequence:
  • NM_001142301.1:c.2255T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153704.5:c.2498T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153704.6:c.2498T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_024522.2:n.2519T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001500515CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Dec 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001500515.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Apr 12, 2021

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