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NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) AND Hoyeraal-Hreidarsson syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000012351.4

Allele description [Variation Report for NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)]

NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)

Gene:
DKC1:dyskerin pseudouridine synthase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)
HGVS:
  • NC_000023.11:g.154765472T>C
  • NG_009780.1:g.7717T>C
  • NM_001142463.3:c.113T>C
  • NM_001288747.2:c.113T>C
  • NM_001363.5:c.113T>CMANE SELECT
  • NP_001135935.1:p.Ile38Thr
  • NP_001275676.1:p.Ile38Thr
  • NP_001354.1:p.Ile38Thr
  • LRG_55t1:c.113T>C
  • LRG_55:g.7717T>C
  • NC_000023.10:g.153993747T>C
  • NM_001363.3:c.113T>C
  • NR_110021.2:n.692T>C
  • NR_110022.2:n.215T>C
  • NR_110023.2:n.215T>C
  • O60832:p.Ile38Thr
Protein change:
I38T; ILE38THR
Links:
UniProtKB: O60832#VAR_015674; UniProtKB/Swiss-Prot: VAR_015674; OMIM: 300126.0012; dbSNP: rs28936072
NCBI 1000 Genomes Browser:
rs28936072
Molecular consequence:
  • NM_001142463.3:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001288747.2:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363.5:c.113T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110021.2:n.692T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110022.2:n.215T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110023.2:n.215T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hoyeraal-Hreidarsson syndrome (HHS)
Synonyms:
CEREBELLAR HYPOPLASIA WITH PANCYTOPENIA; Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia
Identifiers:
MONDO: MONDO:0018045; MedGen: C1846142

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000055772GeneReviews
no classification provided
not providedunknownliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Dyskeratosis Congenita and Related Telomere Biology Disorders..

Savage SA, Niewisch MR.

2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.

PubMed [citation]
PMID:
20301779

Details of each submission

From GeneReviews, SCV000055772.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Jan 13, 2025