NM_024747.6(HPS6):c.335G>A (p.Trp112Ter) AND Hermansky-Pudlak syndrome 6

Clinical significance:Likely pathogenic (Last evaluated: Nov 13, 2020)

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:
RCV001290773.1

Allele description [Variation Report for NM_024747.6(HPS6):c.335G>A (p.Trp112Ter)]

NM_024747.6(HPS6):c.335G>A (p.Trp112Ter)

Gene:
HPS6:HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q24.32
Genomic location:
Preferred name:
NM_024747.6(HPS6):c.335G>A (p.Trp112Ter)
HGVS:
  • NC_000010.11:g.102065809G>A
  • NG_012029.1:g.5420G>A
  • NM_024747.6:c.335G>AMANE SELECT
  • NP_079023.2:p.Trp112Ter
  • LRG_564:g.5420G>A
  • NC_000010.10:g.103825566G>A
Protein change:
W112*
Molecular consequence:
  • NM_024747.6:c.335G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Hermansky-Pudlak syndrome 6 (HPS6)
Identifiers:
MONDO: MONDO:0013558; MedGen: C3888007; Orphanet: 231512; Orphanet: 79430; OMIM: 614075

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001478884Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou Universityno assertion criteria providedLikely pathogenic
(Nov 13, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University, SCV001478884.1

#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: Oct 7, 2021

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