NM_000277.2(PAH):c.704A>C (p.Gln235Pro) 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:
RCV000089042.1

Allele description [Variation Report for NM_000277.2(PAH):c.704A>C (p.Gln235Pro)]

NM_000277.2(PAH):c.704A>C (p.Gln235Pro)

Gene:
PAH:phenylalanine hydroxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.2
Genomic location:
Preferred name:
NM_000277.2(PAH):c.704A>C (p.Gln235Pro)
HGVS:
  • NC_000012.12:g.102855138T>G
  • NG_008690.2:g.108273A>C
  • NM_000277.2:c.704A>C
  • NP_000268.1:p.Gln235Pro
  • NC_000012.11:g.103248916T>G
  • NM_000277.1:c.704A>C
Protein change:
Q235P
Links:
dbSNP: rs199475656
NCBI 1000 Genomes Browser:
rs199475656
Molecular consequence:
  • NM_000277.2:c.704A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119647DeBelle 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, SCV000119647.1

#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: Sep 8, 2018