chr12:102840493:G>A Detail (hg38) (PAH)

Information

Genome

Assembly Position
hg19 chr12:103,234,271-103,234,271 View the variant detail on this assembly version.
hg38 chr12:102,840,493-102,840,493

HGVS

Type Transcript Protein
RefSeq NM_000277.1:c.1222C>T NP_000268.1:p.Arg408Trp
Ensemble ENST00000307000.7:c.1207C>T ENST00000307000.7:p.Arg403Trp
ENST00000553106.6:c.1222C>T ENST00000553106.6:p.Arg408Trp
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 tgv380873077 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2018-08-06 reviewed by expert panel phenylketonuria biparental germline inherited maternal unknown Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline not provided unknown Detail
Pathogenic 2021-12-20 criteria provided, single submitter unknown Detail
Pathogenic 2021-07-08 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2023-06-01 criteria provided, single submitter PAH-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.375 Phenylketonurias NA CLINVAR Detail
0.389 Classical phenylketonuria Among 107 families, 58 were classified as classic PKU (54.2%), 28 as mild PKU (2... UNIPROT 22513348 Detail
0.375 Phenylketonurias The R408W mutation in the phenylalanine hydroxylase gene (PAH) of phenylketonuri... BeFree 7833927 Detail
0.375 Phenylketonurias Different presentations of late-detected phenylketonuria in two brothers with th... BeFree 12542580 Detail
0.375 Phenylketonurias Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phen... BeFree 8946176 Detail
0.389 Classical phenylketonuria We have used the fluorescent multiplex ARMS method for the identification of com... BeFree 8808316 Detail
0.389 Classical phenylketonuria The R408W mutation in the phenylalanine hydroxylase gene (PAH) of phenylketonuri... BeFree 7833927 Detail
0.375 Phenylketonurias The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in... BeFree 12655548 Detail
0.375 Phenylketonurias The PAH mutant proteins (R158Q, I174T and R408W) that result in the classical ph... BeFree 19036622 Detail
0.389 Classical phenylketonuria The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in... BeFree 12655548 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
0.375 Phenylketonurias We have used the fluorescent multiplex ARMS method for the identification of com... BeFree 8808316 Detail
0.389 Classical phenylketonuria Different presentations of late-detected phenylketonuria in two brothers with th... BeFree 12542580 Detail
0.389 Classical phenylketonuria Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phen... BeFree 8946176 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) AND Phenylketonuria ClinVar Detail
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) AND not provided ClinVar Detail
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) AND Reduced phenylalanine hydroxylase level ClinVar Detail
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) AND Inborn genetic diseases ClinVar Detail
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) AND PAH-related disorder ClinVar Detail
NA DisGeNET Detail
Among 107 families, 58 were classified as classic PKU (54.2%), 28 as mild PKU (25.9%) and 21 as MHP ... DisGeNET Detail
The R408W mutation in the phenylalanine hydroxylase gene (PAH) of phenylketonuria patients occurs on... DisGeNET Detail
Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X g... DisGeNET Detail
Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromoso... DisGeNET Detail
We have used the fluorescent multiplex ARMS method for the identification of common phenylketonuria ... DisGeNET Detail
The R408W mutation in the phenylalanine hydroxylase gene (PAH) of phenylketonuria patients occurs on... DisGeNET Detail
The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in the human phenylala... DisGeNET Detail
The PAH mutant proteins (R158Q, I174T and R408W) that result in the classical phenylketonuria (PKU) ... DisGeNET Detail
The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in the human phenylala... 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
We have used the fluorescent multiplex ARMS method for the identification of common phenylketonuria ... DisGeNET Detail
Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X g... DisGeNET Detail
Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromoso... 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
rs5030858 dbSNP
Genome
hg38
Position
chr12:102,840,493-102,840,493
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8654
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)
121328
Allele Counts in All Race (ExAC)
80
Heterozygous Counts in All Race (ExAC)
80
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
6.593696426216537E-4
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