chr12:103288671:A>G Detail (hg19) (PAH)

Information

Genome

Assembly Position
hg19 chr12:103,288,671-103,288,671
hg38 chr12:102,894,893-102,894,893 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000277.1:c.194T>C NP_000268.1:p.Ile65Thr
Ensemble ENST00000553106.6:c.194T>C ENST00000553106.6:p.Ile65Thr
ENST00000307000.7:c.179T>C ENST00000307000.7:p.Ile60Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 612349 OMIM
HGNC 8582 HGNC
Ensembl ENSG00000171759 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2018-04-21 reviewed by expert panel phenylketonuria germline paternal unknown Detail
Pathogenic 2023-07-01 criteria provided, multiple submitters, no conflicts not provided germline not provided unknown Detail
Pathogenic 2019-03-08 criteria provided, single submitter germline Detail
Pathogenic 2023-08-11 criteria provided, single submitter PAH-related disorder germline Detail
Pathogenic 2021-01-26 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.375 Phenylketonurias NA CLINVAR Detail
0.152 Hyperphenylalaninaemia The F39L, L48S, and I65T PAH mutations were selected because each is associated ... BeFree 10720436 Detail
0.375 Phenylketonurias We describe the application of the novel technique of Glycosylase Mediated Polym... BeFree 11317360 Detail
0.389 Classical phenylketonuria We describe the application of the novel technique of Glycosylase Mediated Polym... BeFree 11317360 Detail
0.389 Classical phenylketonuria Eight new mutations of the phenylalanine hydroxylase gene in Italian patients wi... UNIPROT 9521426 Detail
0.389 Classical phenylketonuria Hyperphenylalaninemia is a common inherited metabolic disease that is due to phe... UNIPROT 12501224 Detail
0.389 Classical phenylketonuria To elucidate the molecular basis of functional impairment in PAH deficiency, we ... UNIPROT 18538294 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) AND Phenylketonuria ClinVar Detail
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) AND not provided ClinVar Detail
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) AND See cases ClinVar Detail
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) AND PAH-related disorder ClinVar Detail
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) AND Inborn genetic diseases ClinVar Detail
NA DisGeNET Detail
The F39L, L48S, and I65T PAH mutations were selected because each is associated with a spectrum of i... DisGeNET Detail
We describe the application of the novel technique of Glycosylase Mediated Polymorphism Detection (G... DisGeNET Detail
We describe the application of the novel technique of Glycosylase Mediated Polymorphism Detection (G... DisGeNET Detail
Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalanin... DisGeNET Detail
Hyperphenylalaninemia is a common inherited metabolic disease that is due to phenylalanine hydroxyla... DisGeNET Detail
To elucidate the molecular basis of functional impairment in PAH deficiency, we investigated the imp... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs75193786 dbSNP
Genome
hg19
Position
chr12:103,288,671-103,288,671
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121240
Allele Counts in All Race (ExAC)
22
Heterozygous Counts in All Race (ExAC)
22
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.814582645991422E-4
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