chr12:103246653:C>T Detail (hg19) (PAH)

Information

Genome

Assembly Position
hg19 chr12:103,246,653-103,246,653
hg38 chr12:102,852,875-102,852,875 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000277.1:c.782G>A NP_000268.1:p.Arg261Gln
Ensemble ENST00000553106.6:c.782G>A ENST00000553106.6:p.Arg261Gln
ENST00000307000.7:c.767G>A ENST00000307000.7:p.Arg256Gln
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 COSM1358231 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2018-08-13 reviewed by expert panel phenylketonuria germline inherited unknown Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline not provided unknown Detail
Pathogenic 2023-11-09 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 Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenyl... BeFree 1915502 Detail
0.389 Classical phenylketonuria In contrast, discordant metabolic phenotypes (mild PKU and MHP) were observed in... BeFree 11708866 Detail
0.375 Phenylketonurias Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenyl... BeFree 1915502 Detail
0.375 Phenylketonurias We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketon... BeFree 11999982 Detail
0.389 Classical phenylketonuria Among 107 families, 58 were classified as classic PKU (54.2%), 28 as mild PKU (2... UNIPROT 22513348 Detail
0.389 Classical phenylketonuria We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketon... BeFree 11999982 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) AND Phenylketonuria ClinVar Detail
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) AND not provided ClinVar Detail
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) AND PAH-related disorder ClinVar Detail
NA DisGeNET Detail
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their m... DisGeNET Detail
In contrast, discordant metabolic phenotypes (mild PKU and MHP) were observed in two unrelated patie... DisGeNET Detail
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their m... DisGeNET Detail
We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketonuria and compare the... 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
We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketonuria and compare the... 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
rs5030849 dbSNP
Genome
hg19
Position
chr12:103,246,653-103,246,653
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8652
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.311604253351826E-4
Chromosome Counts in All Race (ExAC)
121376
Allele Counts in All Race (ExAC)
33
Heterozygous Counts in All Race (ExAC)
33
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.7188241497495385E-4
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