NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter) AND Encephalopathy

Clinical significance:Likely pathogenic (Last evaluated: Mar 19, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000203568.1

Allele description [Variation Report for NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter)]

NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter)

Gene:
UNC80:unc-80 homolog, NALCN channel complex subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q34
Genomic location:
Preferred name:
NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter)
HGVS:
  • NC_000002.12:g.209872917C>T
  • NG_051361.1:g.105993C>T
  • NG_075579.1:g.333C>T
  • NM_001371986.1:c.3787C>TMANE SELECT
  • NM_032504.1:c.3793C>T
  • NM_032504.2:c.3793C>T
  • NM_182587.4:c.3778C>T
  • NP_001358915.1:p.Arg1263Ter
  • NP_115893.1:p.Arg1265Ter
  • NP_115893.1:p.Arg1265Ter
  • NP_872393.3:p.Arg1260Ter
  • NC_000002.11:g.210737641C>T
Protein change:
R1260*; ARG1265TER
Links:
OMIM: 612636.0005; dbSNP: rs864321622
NCBI 1000 Genomes Browser:
rs864321622
Molecular consequence:
  • NM_001371986.1:c.3787C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_032504.1:c.3793C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_032504.2:c.3793C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_182587.4:c.3778C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Encephalopathy
Synonyms:
Unspecified encephalopathy
Identifiers:
MedGen: C0085584; Human Phenotype Ontology: HP:0001298

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000258546Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centrecriteria provided, single submitter
Likely pathogenic
(Mar 19, 2015)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedresearch

Citations

PubMed

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.

Shamseldin HE, Faqeih E, Alasmari A, Zaki MS, Gleeson JG, Alkuraya FS.

Am J Hum Genet. 2016 Jan 7;98(1):210-5. doi: 10.1016/j.ajhg.2015.11.013. Epub 2015 Dec 17.

PubMed [citation]
PMID:
26708753
PMCID:
PMC4716667

Details of each submission

From Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre, SCV000258546.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

Last Updated: Oct 25, 2021

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