NM_000277.3(PAH):c.43_44CT[2] (p.Leu15_Ser16insTer) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 2, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000088944.2

Allele description [Variation Report for NM_000277.3(PAH):c.43_44CT[2] (p.Leu15_Ser16insTer)]

NM_000277.3(PAH):c.43_44CT[2] (p.Leu15_Ser16insTer)

Gene:
PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_000277.3(PAH):c.43_44CT[2] (p.Leu15_Ser16insTer)
Other names:
NM_000277.2(PAH):c.47_48delCT
HGVS:
  • NC_000012.12:g.102917083_102917084AG[2]
  • NG_008690.2:g.46323_46324CT[2]
  • NM_001354304.2:c.43_44CT[2]
  • NP_000268.1:p.Leu15_Ser16insTer
  • NP_001341233.1:p.Leu15_Ser16insTer
  • NC_000012.11:g.103310861_103310862AG[2]
  • NC_000012.12:g.102917083_102917084delAG
  • NM_000277.1:c.47_48del
  • NM_000277.1:c.47_48delCT
  • NM_000277.3:c.43_44CT[2]MANE SELECT
  • NM_000277.3:c.47_48delCTMANE SELECT
Links:
dbSNP: rs62642906
NCBI 1000 Genomes Browser:
rs62642906
Molecular consequence:
  • NM_001354304.2:c.43_44CT[2] - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119545DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTEno assertion providednot providednot providednot provided

SCV000203188EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Apr 2, 2014)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Details of each submission

From DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE, SCV000119545.1

#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 EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000203188.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: May 23, 2021

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