NM_001127671.2(LIFR):c.992-15dup AND Stüve-Wiedemann syndrome

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000282644.2

Allele description [Variation Report for NM_001127671.2(LIFR):c.992-15dup]

NM_001127671.2(LIFR):c.992-15dup

Gene:
LIFR:LIF receptor subunit alpha [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5p13.1
Genomic location:
Preferred name:
NM_001127671.2(LIFR):c.992-15dup
HGVS:
  • NC_000005.10:g.38506647dup
  • NG_011817.1:g.93766dup
  • NM_001127671.2:c.992-15dupMANE SELECT
  • NM_001364297.1:c.992-15dup
  • NM_001364298.1:c.992-15dup
  • NM_002310.6:c.992-15dup
  • NC_000005.9:g.38506741_38506742insA
  • NC_000005.9:g.38506749dup
  • NM_002310.5:c.992-8dupT
  • NM_002310.5:c.992-8dupT
Links:
dbSNP: rs773048780
NCBI 1000 Genomes Browser:
rs773048780
Molecular consequence:
  • NM_001127671.2:c.992-15dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364297.1:c.992-15dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364298.1:c.992-15dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002310.6:c.992-15dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Stüve-Wiedemann syndrome
Synonyms:
Stuve-Wiedemann syndrome; Schwartz-Jampel syndrome type 2; Schwartz-Jampel syndrome neonatal; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011108; MedGen: C0796176; Orphanet: 3206; OMIM: 601559

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000457596Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000457596.2

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

Last Updated: Sep 29, 2021

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