NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser) AND Short stature

Clinical significance:Likely pathogenic (Last evaluated: Nov 18, 2001)

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:
RCV000736190.1

Allele description [Variation Report for NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser)]

NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser)

Gene:
UBR4:ubiquitin protein ligase E3 component n-recognin 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.13
Genomic location:
Preferred name:
NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser)
HGVS:
  • NC_000001.11:g.19155051C>T
  • NG_027669.1:g.60202G>A
  • NM_020765.3:c.6325G>AMANE SELECT
  • NP_065816.2:p.Gly2109Ser
  • NC_000001.10:g.19481545C>T
  • NM_020765.2:c.6325G>A
Protein change:
G2109S
Links:
dbSNP: rs144709443
NCBI 1000 Genomes Browser:
rs144709443
Molecular consequence:
  • NM_020765.3:c.6325G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short stature
Synonyms:
Decreased body height; Height less than 3rd percentile; Small stature; See all synonyms [MedGen]
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000864487Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnbergno assertion criteria providedLikely pathogenic
(Nov 18, 2001)
germlinecase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000864487.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2021

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