NM_014053.4(FLVCR1):c.1092+5G>A AND Retinal dystrophy

Clinical significance:Pathogenic (Last evaluated: Jun 25, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001075766.1

Allele description [Variation Report for NM_014053.4(FLVCR1):c.1092+5G>A]

NM_014053.4(FLVCR1):c.1092+5G>A

Gene:
FLVCR1:FLVCR heme transporter 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.3
Genomic location:
Preferred name:
NM_014053.4(FLVCR1):c.1092+5G>A
HGVS:
  • NC_000001.11:g.212883443G>A
  • NG_028131.1:g.30189G>A
  • NM_014053.4:c.1092+5G>AMANE SELECT
  • NC_000001.10:g.213056785G>A
  • NM_014053.3:c.1092+5G>A
Links:
dbSNP: rs556788423
NCBI 1000 Genomes Browser:
rs556788423
Molecular consequence:
  • NM_014053.4:c.1092+5G>A - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001241398Blueprint Geneticscriteria provided, single submitter
Pathogenic
(Jun 25, 2019)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001241398

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001241398.1

#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: Oct 6, 2021

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