NM_000330.3(RS1):c.216G>C (p.Glu72Asp) AND not provided

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000085251.1

Allele description [Variation Report for NM_000330.3(RS1):c.216G>C (p.Glu72Asp)]

NM_000330.3(RS1):c.216G>C (p.Glu72Asp)

Genes:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
RS1:retinoschisin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_000330.3(RS1):c.216G>C (p.Glu72Asp)
HGVS:
  • NC_000023.11:g.18647301C>G
  • NG_008659.3:g.35148G>C
  • NM_000330.3:c.216G>C
  • NP_000321.1:p.Glu72Asp
  • LRG_702t1:c.216G>C
  • LRG_702:g.35148G>C
  • LRG_702p1:p.Glu72Asp
  • NC_000023.10:g.18665421C>G
  • O15537:p.Glu72Asp
Protein change:
E72D; GLU72ASP
Links:
UniProtKB: O15537#VAR_008180; OMIM: 300839.0004; dbSNP: rs104894932
NCBI 1000 Genomes Browser:
rs104894932
Molecular consequence:
  • NM_000330.3:c.216G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000117388Retina Internationalno assertion providednot providednot providednot provided

Description

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Retina International, SCV000117388.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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