U.S. flag

An official website of the United States government

NM_000277.3(PAH):c.111dup (p.Ile38fs) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000088764.1

Allele description [Variation Report for NM_000277.3(PAH):c.111dup (p.Ile38fs)]

NM_000277.3(PAH):c.111dup (p.Ile38fs)

Gene:
PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_000277.3(PAH):c.111dup (p.Ile38fs)
HGVS:
  • NC_000012.12:g.102912848dup
  • NG_008690.2:g.50563dup
  • NM_000277.1(PAH):c.111_112insG
  • NM_000277.3:c.111dupMANE SELECT
  • NM_001354304.2:c.111dup
  • NP_000268.1:p.Ile38fs
  • NP_001341233.1:p.Ile38fs
  • NC_000012.11:g.103306626dup
  • NC_000012.12:g.102912848dupC
  • NM_000277.1(PAH):c.111_112insG
  • NM_000277.1:c.111_112insG
  • p.Ile38Aspfs
Protein change:
I38fs
Links:
dbSNP: rs199475674
NCBI 1000 Genomes Browser:
rs199475674
Molecular consequence:
  • NM_000277.3:c.111dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354304.2:c.111dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000119348DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE
no classification provided
not providednot providednot provided

Help

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, SCV000119348.1

#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: Apr 23, 2022