NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) AND not provided

Clinical significance:Pathogenic

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001724154.2

Allele description [Variation Report for NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)]

NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)

Gene:
GALC:galactosylceramidase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
14q31.3
Genomic location:
Preferred name:
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)
HGVS:
  • NC_000014.9:g.87941415dup
  • NG_011853.2:g.57149dup
  • NG_011853.3:g.57149dup
  • NM_000153.4:c.1814dupMANE SELECT
  • NM_001201401.2:c.1745dup
  • NM_001201402.2:c.1736dup
  • NP_000144.2:p.Tyr605Ter
  • NP_001188330.1:p.Tyr582Ter
  • NP_001188331.1:p.Tyr579Ter
  • NC_000014.8:g.88407758_88407759insT
  • NC_000014.8:g.88407759dup
  • NM_000153.3:c.1814dup
  • NM_000153.3:c.1814dupA
Protein change:
Y579*
Links:
dbSNP: rs766007316
NCBI 1000 Genomes Browser:
rs766007316
Molecular consequence:
  • NM_000153.4:c.1814dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001201401.2:c.1745dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001201402.2:c.1736dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001959367Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

SCV001975005Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedPathogenicgermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001959367.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001975005.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 6, 2021

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