NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter) AND Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair

Clinical significance:Likely pathogenic (Last evaluated: Sep 24, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000754581.1

Allele description [Variation Report for NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter)]

NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter)

Gene:
CCDC47:coiled-coil domain containing 47 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_020198.3(CCDC47):c.1189C>T (p.Arg397Ter)
HGVS:
  • NC_000017.11:g.63752334G>A
  • NM_020198.3:c.1189C>TMANE SELECT
  • NP_064583.2:p.Arg397Ter
  • NC_000017.10:g.61829694G>A
  • NM_020198.2:c.1189C>T
  • p.Arg397*
Protein change:
R397*; ARG397TER
Links:
OMIM: 618260.0004; dbSNP: rs1269750663
NCBI 1000 Genomes Browser:
rs1269750663
Molecular consequence:
  • NM_020198.3:c.1189C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair
Identifiers:

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000809006Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Healthcriteria provided, single submitter
Likely pathogenic
(Sep 24, 2018)
paternalresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot providednot providednot providedresearch

Citations

PubMed

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.

Morimoto M, Waller-Evans H, Ammous Z, Song X, Strauss KA, Pehlivan D, Gonzaga-Jauregui C, Puffenberger EG, Holst CR, Karaca E, Brigatti KW, Maguire E, Coban-Akdemir ZH, Amagata A, Lau CC, Chepa-Lotrea X, Macnamara E, Tos T, Isikay S, Nehrebecky M, Overton JD, Klein M, et al.

Am J Hum Genet. 2018 Nov 1;103(5):794-807. doi: 10.1016/j.ajhg.2018.09.014. Epub 2018 Oct 25.

PubMed [citation]
PMID:
30401460
PMCID:
PMC6218603

Details of each submission

From Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health, SCV000809006.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 10, 2021

Support Center