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NM_003359.4(UGDH):c.131C>T (p.Ala44Val) AND Epileptic encephalopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 1, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000999490.2

Allele description [Variation Report for NM_003359.4(UGDH):c.131C>T (p.Ala44Val)]

NM_003359.4(UGDH):c.131C>T (p.Ala44Val)

Gene:
UGDH:UDP-glucose 6-dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p14
Genomic location:
Preferred name:
NM_003359.4(UGDH):c.131C>T (p.Ala44Val)
Other names:
NP_003350.1:p.(Ala44Val)
HGVS:
  • NC_000004.12:g.39521382G>A
  • NM_001184700.2:c.131C>T
  • NM_001184701.2:c.-130+5901C>T
  • NM_003359.4:c.131C>TMANE SELECT
  • NP_001171629.1:p.Ala44Val
  • NP_003350.1:p.Ala44Val
  • NC_000004.11:g.39523002G>A
  • NM_003359.3:c.131C>T
Protein change:
A44V; ALA44VAL
Links:
OMIM: 603370.0001; dbSNP: rs749975104
NCBI 1000 Genomes Browser:
rs749975104
Molecular consequence:
  • NM_001184701.2:c.-130+5901C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001184700.2:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003359.4:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epileptic encephalopathy
Identifiers:
MedGen: C0543888; Human Phenotype Ontology: HP:0200134

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001156131Section for Clinical Neurogenetics, University of Tübingen
no assertion criteria provided
Likely pathogenic
(Oct 1, 2019) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, et al.

Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7.

PubMed [citation]
PMID:
32001716
PMCID:
PMC6992768

Details of each submission

From Section for Clinical Neurogenetics, University of Tübingen, SCV001156131.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024