NM_015335.4(MED13L):c.5444del (p.Thr1815fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 10, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000239101.1

Allele description [Variation Report for NM_015335.4(MED13L):c.5444del (p.Thr1815fs)]

NM_015335.4(MED13L):c.5444del (p.Thr1815fs)

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
NM_015335.4(MED13L):c.5444del (p.Thr1815fs)
HGVS:
  • NC_000012.12:g.115975659del
  • NG_023366.1:g.306528del
  • NM_015335.4:c.5444del
  • NP_056150.1:p.Thr1815fs
  • NC_000012.11:g.116413464del
  • NM_015335.4:c.5444delC
Protein change:
T1815fs
Links:
dbSNP: rs879255407
NCBI 1000 Genomes Browser:
rs879255407
Molecular consequence:
  • NM_015335.4:c.5444del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000297254Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphiacriteria provided, single submitter
Pathogenic
(Aug 10, 2015)
unknownclinical testing

DGD_Variant_Analysis_Guidelines.docx

Citation Link

Summary from all submissions

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

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia, SCV000297254.2

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

Last Updated: Sep 25, 2021

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