NM_014714.4(IFT140):c.3713C>T (p.Ala1238Val) AND Retinal dystrophy

Clinical significance:Uncertain significance (Last evaluated: Mar 23, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001075032.1

Allele description [Variation Report for NM_014714.4(IFT140):c.3713C>T (p.Ala1238Val)]

NM_014714.4(IFT140):c.3713C>T (p.Ala1238Val)

Gene:
IFT140:intraflagellar transport 140 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_014714.4(IFT140):c.3713C>T (p.Ala1238Val)
HGVS:
  • NC_000016.10:g.1520291G>A
  • NG_032783.1:g.96818C>T
  • NM_014714.4:c.3713C>TMANE SELECT
  • NP_055529.2:p.Ala1238Val
  • NC_000016.9:g.1570292G>A
  • NM_014714.3:c.3713C>T
Protein change:
A1238V
Molecular consequence:
  • NM_014714.4:c.3713C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001240643Blueprint Geneticscriteria provided, single submitter
Uncertain significance
(Mar 23, 2018)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001240643

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001240643.1

#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 3, 2020

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