NM_012064.3(MIP):c.97C>T (p.Arg33Cys) AND Congenital cataract

Clinical significance:Pathogenic (Last evaluated: Jan 9, 2015)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000203320.1

Allele description

NM_012064.3(MIP):c.97C>T (p.Arg33Cys)

Gene:
MIP:major intrinsic protein of lens fiber [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.3
Genomic location:
Preferred name:
NM_012064.3(MIP):c.97C>T (p.Arg33Cys)
HGVS:
  • NC_000012.12:g.56454517G>A
  • NG_021397.1:g.5135C>T
  • NM_012064.3:c.97C>T
  • NP_036196.1:p.Arg33Cys
  • NC_000012.11:g.56848301G>A
Protein change:
R33C
Links:
dbSNP: rs864309693
NCBI 1000 Genomes Browser:
rs864309693
Molecular consequence:
  • NM_012064.3:c.97C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital cataract
Synonyms:
Bilateral cataracts; Bilateral congenital cataracts; Cataracts, lenticular, bilateral; See all synonyms [MedGen]
Identifiers:
MedGen: C1842324; Human Phenotype Ontology: HP:0000519

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000256024Eye Genetics Research Group,Children's Medical Research Instituteno assertion criteria providedPathogenic
(Jan 9, 2015)
de novoresearch

PubMed (1)
[See all records that cite this PMID]

Description

Family 28

SCV000256024

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Ma AS, Grigg JR, Ho G, Prokudin I, Farnsworth E, Holman K, Cheng A, Billson FA, Martin F, Fraser C, Mowat D, Smith J, Christodoulou J, Flaherty M, Bennetts B, Jamieson RV.

Hum Mutat. 2016 Apr;37(4):371-84. doi: 10.1002/humu.22948. Epub 2016 Jan 14.

PubMed [citation]
PMID:
26694549
PMCID:
PMC4787201

Details of each submission

From Eye Genetics Research Group,Children's Medical Research Institute, SCV000256024.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 26, 2016