NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg) AND Meckel-Gruber syndrome

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000256454.1

Allele description [Variation Report for NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg)]

NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg)

Gene:
TMEM138:transmembrane protein 138 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.2
Genomic location:
Preferred name:
NM_016464.5(TMEM138):c.134A>G (p.Gln45Arg)
HGVS:
  • NC_000011.10:g.61366050A>G
  • NG_032581.1:g.9050A>G
  • NM_001330281.2:c.-41A>G
  • NM_016464.5:c.134A>GMANE SELECT
  • NP_057548.1:p.Gln45Arg
  • NC_000011.9:g.61133522A>G
  • NM_016464.4:c.134A>G
  • NR_028473.2:n.203A>G
  • p.(Gln45Arg)
Protein change:
Q45R
Links:
dbSNP: rs886039804
NCBI 1000 Genomes Browser:
rs886039804
Molecular consequence:
  • NM_001330281.2:c.-41A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_016464.5:c.134A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_028473.2:n.203A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Meckel-Gruber syndrome
Synonyms:
DYSENCEPHALIA SPLANCHNOCYSTICA; Gruber syndrome; Dysencephalia splachnocystica
Identifiers:
MONDO: MONDO:0018921; MedGen: C0265215; OMIM: PS249000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000322786Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centreno assertion criteria providedLikely pathogenicgermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre, SCV000322786.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 17, 2020

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