NM_015335.4(MED13L):c.626-2A>G AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 2, 2017)

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:
RCV000656314.1

Allele description [Variation Report for NM_015335.4(MED13L):c.626-2A>G]

NM_015335.4(MED13L):c.626-2A>G

Gene:
MED13L:mediator complex subunit 13L [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.21
Genomic location:
Preferred name:
NM_015335.4(MED13L):c.626-2A>G
HGVS:
  • NC_000012.12:g.116019974T>C
  • NG_023366.1:g.262213A>G
  • NM_015335.4:c.626-2A>G
  • NC_000012.11:g.116457779T>C
Links:
dbSNP: rs1555249664
NCBI 1000 Genomes Browser:
rs1555249664
Molecular consequence:
  • NM_015335.4:c.626-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000778287Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantesno assertion criteria providedPathogenic
(Nov 2, 2017)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes, SCV000778287.1

#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: Mar 7, 2021

Support Center