NM_004715.5(CTDP1):c.2418-207_2418-165dup AND Congenital cataracts-facial dysmorphism-neuropathy syndrome

Clinical significance:Benign (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000990115.1

Allele description [Variation Report for NM_004715.5(CTDP1):c.2418-207_2418-165dup]

NM_004715.5(CTDP1):c.2418-207_2418-165dup

Gene:
CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
18q23
Genomic location:
Preferred name:
NM_004715.5(CTDP1):c.2418-207_2418-165dup
HGVS:
  • NC_000018.10:g.79728700_79728742dup
  • NG_007988.1:g.53900_53942dup
  • NM_001202504.1:c.2061-207_2061-165dup
  • NM_001318511.2:c.2418-207_2418-165dup
  • NM_004715.5:c.2418-207_2418-165dupMANE SELECT
  • NM_048368.4:c.2418-7655_2418-7613dup
  • LRG_236:g.53900_53942dup
  • NC_000018.9:g.77488698_77488699insTGTTTTGCCAGTCACCCTGGCTCAGTTAGCAAATTCTGATCCA
  • NC_000018.9:g.77488700_77488742dup
Links:
dbSNP: rs147933855
NCBI 1000 Genomes Browser:
rs147933855
Molecular consequence:
  • NM_001202504.1:c.2061-207_2061-165dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001318511.2:c.2418-207_2418-165dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004715.5:c.2418-207_2418-165dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_048368.4:c.2418-7655_2418-7613dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN)
Synonyms:
CATARACT, CONGENITAL, WITH FACIAL DYSMORPHISM AND NEUROPATHY; Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Identifiers:
MONDO: MONDO:0011402; MedGen: C1858726; Orphanet: 48431; OMIM: 604168

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001140920Mendelicscriteria provided, single submitter
Benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV001140920.1

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

Last Updated: Nov 20, 2021

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