NM_004715.5(CTDP1):c.1461G>A (p.Pro487=) AND Congenital cataracts-facial dysmorphism-neuropathy syndrome

Clinical significance:Benign

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:
RCV000602719.1

Allele description [Variation Report for NM_004715.5(CTDP1):c.1461G>A (p.Pro487=)]

NM_004715.5(CTDP1):c.1461G>A (p.Pro487=)

Gene:
CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q23
Genomic location:
Preferred name:
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=)
HGVS:
  • NC_000018.10:g.79714921G>A
  • NG_007988.1:g.40121G>A
  • NM_001202504.1:c.1104G>A
  • NM_001318511.2:c.1461G>A
  • NM_004715.5:c.1461G>AMANE SELECT
  • NM_048368.4:c.1461G>A
  • NP_001189433.1:p.Pro368=
  • NP_001305440.1:p.Pro487=
  • NP_004706.3:p.Pro487=
  • NP_004706.3:p.Pro487=
  • NP_430255.2:p.Pro487=
  • LRG_236t1:c.1461G>A
  • LRG_236:g.40121G>A
  • LRG_236p1:p.Pro487=
  • NC_000018.9:g.77474921G>A
  • NM_004715.4:c.1461G>A
Links:
dbSNP: rs2126082
NCBI 1000 Genomes Browser:
rs2126082
Molecular consequence:
  • NM_001202504.1:c.1104G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001318511.2:c.1461G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004715.5:c.1461G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_048368.4:c.1461G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000733807Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000733807.1

#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: Dec 4, 2021

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