NM_015335.4(MED13L):c.4452del (p.Phe1484fs) AND Mental retardation and distinctive facial features with or without cardiac defects

Clinical significance:Pathogenic

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:
RCV000497802.1

Allele description [Variation Report for NM_015335.4(MED13L):c.4452del (p.Phe1484fs)]

NM_015335.4(MED13L):c.4452del (p.Phe1484fs)

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.4452del (p.Phe1484fs)
HGVS:
  • NC_000012.12:g.115984261del
  • NG_023366.1:g.297928del
  • NM_015335.4:c.4452del
  • NP_056150.1:p.Phe1484fs
  • NC_000012.11:g.116422066del
Protein change:
F1484fs
Links:
dbSNP: rs1555243582
NCBI 1000 Genomes Browser:
rs1555243582
Molecular consequence:
  • NM_015335.4:c.4452del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
termination codon change [Variation Ontology: 0309]
Observations:
1

Condition(s)

Name:
Mental retardation and distinctive facial features with or without cardiac defects (MRFACD)
Synonyms:
ASADOLLAHI-RAUCH SYNDROME
Identifiers:
MONDO: MONDO:0014773; MedGen: C4225208; Orphanet: 369891; OMIM: 616789

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000485013Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lilleno assertion criteria providedPathogenicde novoclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV000485013.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 25, 2021

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