NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) AND Child syndrome

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2002)

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:
RCV000012183.11

Allele description [Variation Report for NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)]

NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro)

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.544G>C (p.Ala182Pro)
HGVS:
  • NC_000023.11:g.152865819G>C
  • NG_009163.2:g.39853G>C
  • NM_001129765.2:c.544G>C
  • NM_015922.3:c.544G>CMANE SELECT
  • NP_001123237.1:p.Ala182Pro
  • NP_057006.1:p.Ala182Pro
  • NC_000023.10:g.152034363G>C
  • Q15738:p.Ala182Pro
Protein change:
A182P; ALA182PRO
Links:
UniProtKB: Q15738#VAR_065289; OMIM: 300275.0005; dbSNP: rs104894904
NCBI 1000 Genomes Browser:
rs104894904
Molecular consequence:
  • NM_001129765.2:c.544G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015922.3:c.544G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000032417OMIMno assertion criteria providedPathogenic
(Apr 1, 2002)
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

A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.

K├Ânig A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, Grzeschik KH.

J Am Acad Dermatol. 2002 Apr;46(4):594-6.

PubMed [citation]
PMID:
11907515

Details of each submission

From OMIM, SCV000032417.1

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

Description

In an unusual female patient with a symmetric distribution of a CHILD nevus (308050), Konig et al. (2002) found a novel heterozygous mutation (544G-C) in exon 6 of the NSDHL gene resulting in an ala182-to-pro missense mutation (A182P).

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

Last Updated: Oct 24, 2021

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