NM_025191.4(EDEM3):c.1204T>G (p.Leu402Val) 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:
RCV000736118.1

Allele description [Variation Report for NM_025191.4(EDEM3):c.1204T>G (p.Leu402Val)]

NM_025191.4(EDEM3):c.1204T>G (p.Leu402Val)

Gene:
EDEM3:ER degradation enhancing alpha-mannosidase like protein 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.3
Genomic location:
Preferred name:
NM_025191.4(EDEM3):c.1204T>G (p.Leu402Val)
HGVS:
  • NC_000001.11:g.184717581A>C
  • NM_001319960.2:c.1204T>G
  • NM_025191.4:c.1204T>GMANE SELECT
  • NP_001306889.1:p.Leu402Val
  • NP_079467.3:p.Leu402Val
  • NC_000001.10:g.184686715A>C
  • NM_025191.3:c.1204T>G
  • NR_135118.1:n.1465T>G
Protein change:
L402V
Links:
dbSNP: rs1558053119
NCBI 1000 Genomes Browser:
rs1558053119
Molecular consequence:
  • NM_001319960.2:c.1204T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025191.4:c.1204T>G - 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
SCV000864415Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnbergno assertion criteria providedLikely pathogenic
(Nov 18, 2001)
de novocase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000864415.1

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

Last Updated: Aug 11, 2021

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