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NM_000277.3(PAH):c.838G>A (p.Glu280Lys) AND Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 27, 2022
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:
RCV003162201.8

Allele description [Variation Report for NM_000277.3(PAH):c.838G>A (p.Glu280Lys)]

NM_000277.3(PAH):c.838G>A (p.Glu280Lys)

Gene:
PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
Other names:
p.E280K:GAA>AAA; p.E280K
HGVS:
  • NC_000012.12:g.102852819C>T
  • NG_008690.2:g.110592G>A
  • NM_000277.3:c.838G>AMANE SELECT
  • NM_001354304.2:c.838G>A
  • NP_000268.1:p.Glu280Lys
  • NP_000268.1:p.Glu280Lys
  • NP_001341233.1:p.Glu280Lys
  • NC_000012.11:g.103246597C>T
  • NM_000277.1:c.838G>A
  • P00439:p.Glu280Lys
Protein change:
E280K; GLU280LYS
Links:
UniProtKB: P00439#VAR_000980; OMIM: 612349.0004; dbSNP: rs62508698
NCBI 1000 Genomes Browser:
rs62508698
Molecular consequence:
  • NM_000277.3:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.838G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis (NEDSPLB)
Identifiers:
MONDO: MONDO:0014679; MedGen: C4225295; OMIM: 616531

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003915642Undiagnosed Diseases Network, NIH
no assertion criteria provided
Pathogenic
(Oct 27, 2022)
paternalclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH, SCV003915642.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providedBloodnot provided1not providednot providednot provided

Last Updated: Nov 10, 2024