NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) AND Retinal dystrophy

Clinical significance:Uncertain significance (Last evaluated: Aug 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001075256.1

Allele description [Variation Report for NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys)]

NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys)
HGVS:
  • NC_000011.10:g.77159449C>T
  • NG_009086.1:g.36186C>T
  • NG_009086.2:g.36204C>T
  • NM_000260.4:c.1006C>TMANE SELECT
  • NM_001127180.2:c.1006C>T
  • NM_001369365.1:c.973C>T
  • NP_000251.3:p.Arg336Cys
  • NP_001120652.1:p.Arg336Cys
  • NP_001356294.1:p.Arg325Cys
  • LRG_1420t1:c.1006C>T
  • LRG_1420:g.36204C>T
  • LRG_1420p1:p.Arg336Cys
  • NC_000011.9:g.76870495C>T
  • NM_000260.3:c.1006C>T
Protein change:
R325C
Links:
dbSNP: rs369997614
NCBI 1000 Genomes Browser:
rs369997614
Molecular consequence:
  • NM_000260.4:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.1006C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.973C>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
SCV001240871Blueprint Geneticscriteria provided, single submitter
Uncertain significance
(Aug 28, 2017)
germlineclinical testing

Citation Link

Description

My Retina Tracker patient

SCV001240871

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001240871.1

#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: Jul 7, 2021

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