NM_000168.5(GLI3):c.2032delG (p.Asp678Thrfs) AND Pallister-Hall syndrome

Clinical significance:Pathogenic (Last evaluated: Sep 13, 2012)

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:
RCV000031861.1

Allele description

NM_000168.5(GLI3):c.2032delG (p.Asp678Thrfs)

Gene:
GLI3:GLI family zinc finger 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p14.1
Genomic location:
Preferred name:
NM_000168.5(GLI3):c.2032delG (p.Asp678Thrfs)
HGVS:
  • NC_000007.14:g.41972408delC
  • NG_008434.1:g.269612delG
  • NM_000168.5:c.2032delG
  • NP_000159.3:p.Asp678Thrfs
  • NC_000007.13:g.42012007delC
Links:
dbSNP: rs116840745
NCBI 1000 Genomes Browser:
rs116840745
Molecular consequence:
  • NM_000168.5:c.2032delG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Pallister-Hall syndrome (PHS)
Identifiers:
MedGen: C0265220; Orphanet: 672; OMIM: 146510

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000054472GeneReviewsno assertion criteria providedpathologic
(Sep 13, 2012)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From GeneReviews, SCV000054472.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Aug 24, 2018