• replaced

NM_007214.4(SEC63):c.109delC (p.Arg37Glufs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Dec 4, 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:
RCV000153932.2

Allele description

NM_007214.4(SEC63):c.109delC (p.Arg37Glufs)

Gene:
SEC63:SEC63 homolog, protein translocation regulator [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_007214.4(SEC63):c.109delC (p.Arg37Glufs)
HGVS:
  • NC_000006.12:g.107957901delG
  • NG_008270.1:g.5378delC
  • NM_007214.4:c.109delC
  • NP_009145.1:p.Arg37Glufs
  • NC_000006.11:g.108279105delG
Links:
dbSNP: rs727504146
NCBI 1000 Genomes Browser:
rs727504146
Molecular consequence:
  • NM_007214.4:c.109delC - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000203549EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsno assertion criteria providedPathogenic
(Dec 4, 2013)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided18not providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000203549.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing
(GTR000501934)
not provided
2not provided0not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown17not providednot provided
(GTR000501934)
1not providednot providednot provided
2germlineunknown1not providednot provided0not providednot providednot provided

Last Updated: Feb 10, 2018

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