NM_000277.3(PAH):c.1099del (p.Leu367fs) AND not provided

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000088757.1

Allele description [Variation Report for NM_000277.3(PAH):c.1099del (p.Leu367fs)]

NM_000277.3(PAH):c.1099del (p.Leu367fs)

Gene:
PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_000277.3(PAH):c.1099del (p.Leu367fs)
HGVS:
  • NC_000012.12:g.102843750del
  • NG_008690.2:g.119665del
  • NM_000277.3:c.1099delMANE SELECT
  • NM_001354304.2:c.1099del
  • NP_000268.1:p.Leu367fs
  • NP_001341233.1:p.Leu367fs
  • NC_000012.11:g.103237524del
  • NC_000012.11:g.103237528del
  • NM_000277.1:c.1099del
  • NM_000277.1:c.1099delC
Protein change:
L367fs
Links:
dbSNP: rs62506951
NCBI 1000 Genomes Browser:
rs62506951
Molecular consequence:
  • NM_000277.3:c.1099del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354304.2:c.1099del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119341DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTEno assertion providednot providednot providednot provided

Summary from all submissions

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

Details of each submission

From DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE, SCV000119341.1

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

Last Updated: Jun 14, 2021

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