NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) AND Child syndrome

Clinical significance:Pathogenic (Last evaluated: Oct 15, 2003)

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:
RCV000012184.11

Allele description [Variation Report for NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)]

NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)

Gene:
NSDHL:NAD(P) dependent steroid dehydrogenase-like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter)
HGVS:
  • NC_000023.11:g.152862632G>T
  • NG_009163.2:g.36666G>T
  • NM_001129765.2:c.451G>T
  • NM_015922.3:c.451G>TMANE SELECT
  • NP_001123237.1:p.Glu151Ter
  • NP_057006.1:p.Glu151Ter
  • NC_000023.10:g.152031176G>T
Protein change:
E151*; GLU151TER
Links:
OMIM: 300275.0006; dbSNP: rs104894905
NCBI 1000 Genomes Browser:
rs104894905
Molecular consequence:
  • NM_001129765.2:c.451G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015922.3:c.451G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Child syndrome
Synonyms:
Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects; Ichthyosis, CHILD syndrome
Identifiers:
MONDO: MONDO:0010621; MedGen: C0265267; Orphanet: 139; OMIM: 308050

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000032418OMIMno assertion criteria providedPathogenic
(Oct 15, 2003)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene.

Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE.

Am J Med Genet A. 2003 Oct 15;122A(3):246-51.

PubMed [citation]
PMID:
12966526

Details of each submission

From OMIM, SCV000032418.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a child with left-sided CHILD syndrome, Hummel et al. (2003) identified a glu151-to-ter (E151X) mutation in the NSDHL gene.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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