chr12:102894893:A>G Detail (hg38) (PAH)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

PAH

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

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

PAH

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	tgv221010434	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

Descrption	Source	Links
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: hg38
Position: chr12:102,894,893-102,894,893
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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