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NM_000322.5(PRPH2):c.730A>C (p.Asn244His) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 6, 2021
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:
RCV000085016.2

Allele description [Variation Report for NM_000322.5(PRPH2):c.730A>C (p.Asn244His)]

NM_000322.5(PRPH2):c.730A>C (p.Asn244His)

Gene:
PRPH2:peripherin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_000322.5(PRPH2):c.730A>C (p.Asn244His)
HGVS:
  • NC_000006.12:g.42704463T>G
  • NG_009176.2:g.23158A>C
  • NM_000322.5:c.730A>CMANE SELECT
  • NP_000313.2:p.Asn244His
  • NC_000006.11:g.42672201T>G
  • NG_009176.1:g.23158A>C
  • NM_000322.4:c.730A>C
Protein change:
N244H
Links:
dbSNP: rs61755815
NCBI 1000 Genomes Browser:
rs61755815
Molecular consequence:
  • NM_000322.5:c.730A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000117152Retina International
no classification provided
not providednot providednot provided

SCV001745106Leiden Open Variation Database
no assertion criteria provided
Pathogenic
(Apr 6, 2021) 		germlinecuration

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

Description

Help

Summary from all submissions

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

Citations

PubMed

Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene.

Nakazawa M, Kikawa E, Chida Y, Wada Y, Shiono T, Tamai M.

Arch Ophthalmol. 1996 Jan;114(1):72-8.

PubMed [citation]
PMID:
8540854

Details of each submission

From Retina International, SCV000117152.1

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

From Leiden Open Variation Database, SCV001745106.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)

Description

Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024