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NM_001042472.3(ABHD12):c.193C>T (p.Arg65Ter) AND Retinal dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000504760.1

Allele description [Variation Report for NM_001042472.3(ABHD12):c.193C>T (p.Arg65Ter)]

NM_001042472.3(ABHD12):c.193C>T (p.Arg65Ter)

Gene:
ABHD12:abhydrolase domain containing 12, lysophospholipase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20p11.21
Genomic location:
Preferred name:
NM_001042472.3(ABHD12):c.193C>T (p.Arg65Ter)
HGVS:
  • NC_000020.11:g.25339350G>A
  • NG_028119.1:g.56633C>T
  • NM_001042472.3:c.193C>TMANE SELECT
  • NM_015600.5:c.193C>T
  • NP_001035937.1:p.Arg65Ter
  • NP_056415.1:p.Arg65Ter
  • NC_000020.10:g.25319986G>A
  • NM_015600.4:c.193C>T
Protein change:
R65*
Links:
dbSNP: rs758316679
NCBI 1000 Genomes Browser:
rs758316679
Molecular consequence:
  • NM_001042472.3:c.193C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_015600.5:c.193C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000599050NIHR Bioresource Rare Diseases, University of Cambridge
no assertion criteria provided
Pathogenic
(Jan 1, 2015) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
South East Asianunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ.

Orphanet J Rare Dis. 2012 Sep 2;7:59. doi: 10.1186/1750-1172-7-59.

PubMed [citation]
PMID:
22938382
PMCID:
PMC3518140

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]
PMID:
28041643
PMCID:
PMC5223092

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000599050.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1South East Asian1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 1, 2023