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NM_000292.3(PHKA2):c.884G>A (p.Arg295His) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 29, 2014
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000190690.2

Allele description [Variation Report for NM_000292.3(PHKA2):c.884G>A (p.Arg295His)]

NM_000292.3(PHKA2):c.884G>A (p.Arg295His)

Gene:
PHKA2:phosphorylase kinase regulatory subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_000292.3(PHKA2):c.884G>A (p.Arg295His)
HGVS:
  • NC_000023.11:g.18940029C>T
  • NG_016622.1:g.49334G>A
  • NM_000292.3:c.884G>AMANE SELECT
  • NP_000283.1:p.Arg295His
  • NC_000023.10:g.18958147C>T
  • NM_000292.2:c.884G>A
  • P46019:p.Arg295His
Protein change:
R295H
Links:
UniProtKB: P46019#VAR_012272; dbSNP: rs797044877
NCBI 1000 Genomes Browser:
rs797044877
Molecular consequence:
  • NM_000292.3:c.884G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000244131Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))
Pathogenic
(Oct 29, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Ashkenazi Jewishgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000244131.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Ashkenazi Jewish1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024