NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu) AND Child syndrome

Clinical significance:Likely pathogenic (Last evaluated: Sep 26, 2019)

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:
RCV000985094.1

Allele description [Variation Report for NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)]

NM_015922.3(NSDHL):c.317C>T (p.Ser106Leu)

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.317C>T (p.Ser106Leu)
HGVS:
  • NC_000023.11:g.152858819C>T
  • NG_009163.2:g.32853C>T
  • NM_001129765.1:c.317C>T
  • NM_001129765.2:c.317C>T
  • NM_015922.3:c.317C>TMANE SELECT
  • NP_001123237.1:p.Ser106Leu
  • NP_001123237.1:p.Ser106Leu
  • NP_057006.1:p.Ser106Leu
  • NC_000023.10:g.152027363C>T
Protein change:
S106L
Links:
dbSNP: rs1602937895
NCBI 1000 Genomes Browser:
rs1602937895
Molecular consequence:
  • NM_001129765.1:c.317C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001129765.2:c.317C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015922.3:c.317C>T - 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
SCV001133058Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical Cityno assertion criteria providedLikely pathogenic
(Sep 26, 2019)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City, SCV001133058.1

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

Last Updated: Oct 24, 2021

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