• replaced

NM_000521.3(HEXB):c.115delG (p.Val39Trpfs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 14, 2013)

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:
RCV000079054.3

Allele description

NM_000521.3(HEXB):c.115delG (p.Val39Trpfs)

Gene:
HEXB:hexosaminidase subunit beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q13.3
Genomic location:
Preferred name:
NM_000521.3(HEXB):c.115delG (p.Val39Trpfs)
HGVS:
  • NC_000005.10:g.74685375delG
  • NG_009770.2:g.50353delG
  • NM_000521.3:c.115delG
  • NM_001292004.1:c.-376-3953delG
  • NP_000512.1:p.Val39Trpfs
  • NC_000005.9:g.73981200delG
  • NG_009770.1:g.5232delG
Links:
dbSNP: rs398123443
NCBI 1000 Genomes Browser:
rs398123443
Molecular consequence:
  • NM_000521.3:c.115delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001292004.1:c.-376-3953delG - intron variant - [Sequence Ontology: SO:0001627]
Observations:
8

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000110923EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsno assertion criteria providedPathogenic
(Mar 14, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown8not providednot provided149not providedclinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]
PMID:
23757202

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000110923.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testing
(GTR000501656)
PubMed (1)
2not provided0not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown149not providednot provided
(GTR000501656)
8not providednot providednot provided
2germlineunknownnot providednot providednot provided0not providednot providednot provided

Last Updated: Feb 10, 2018