NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup) AND Retinal dystrophy

Clinical significance:Uncertain significance (Last evaluated: Oct 10, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001075463.1

Allele description [Variation Report for NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)]

NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)

Gene:
IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)
HGVS:
  • NC_000016.10:g.1511119CGC[4]
  • NC_000016.10:g.1511119_1511121CGC[4]
  • NG_032783.1:g.105984GGC[4]
  • NG_050910.1:g.22776CGC[4]
  • NM_014714.4:c.4208GGC[4]MANE SELECT
  • NP_055529.2:p.Arg1405dup
  • NC_000016.9:g.1561117_1561118insGCC
  • NC_000016.9:g.1561120CGC[4]
  • NM_014714.3:c.4214_4216dup
  • NM_014714.3:c.4214_4216dupGGC
Links:
dbSNP: rs754312950
NCBI 1000 Genomes Browser:
rs754312950
Molecular consequence:
  • NM_014714.4:c.4208GGC[4] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001241086Blueprint Geneticscriteria provided, single submitter
Uncertain significance
(Oct 10, 2018)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001241086

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001241086.1

#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: May 28, 2021

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