U.S. flag

An official website of the United States government

NM_000277.3(PAH):c.161T>C (p.Leu54Ser) 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:
RCV000088843.1

Allele description [Variation Report for NM_000277.3(PAH):c.161T>C (p.Leu54Ser)]

NM_000277.3(PAH):c.161T>C (p.Leu54Ser)

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.161T>C (p.Leu54Ser)
HGVS:
  • NC_000012.12:g.102912798A>G
  • NG_008690.2:g.50613T>C
  • NM_000277.3:c.161T>CMANE SELECT
  • NM_001354304.2:c.161T>C
  • NP_000268.1:p.Leu54Ser
  • NP_001341233.1:p.Leu54Ser
  • NC_000012.11:g.103306576A>G
  • NM_000277.1:c.161T>C
Protein change:
L54S
Links:
dbSNP: rs199475677
NCBI 1000 Genomes Browser:
rs199475677
Molecular consequence:
  • NM_000277.3:c.161T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354304.2:c.161T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119436DeBelle Laboratory for Biochemical Genetics, MUHC/MCH RESEARCH INSTITUTE
no classification provided
not 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, SCV000119436.1

#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: Jul 23, 2024