chr12:103237440:C>G Detail (hg19) (PAH)

Information

Genome

Assembly Position
hg19 chr12:103,237,440-103,237,440
hg38 chr12:102,843,662-102,843,662 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000277.1:c.1183G>C NP_000268.1:p.Ala395Pro
Ensemble ENST00000553106.6:c.1183G>C ENST00000553106.6:p.Ala395Pro
ENST00000307000.7:c.1168G>C ENST00000307000.7:p.Ala390Pro
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
not provided no assertion provided not provided not provided Detail
Pathogenic 2023-10-19 criteria provided, multiple submitters, no conflicts phenylketonuria germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.375 Phenylketonurias We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketon... BeFree 11999982 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.1183G>C (p.Ala395Pro) AND not provided ClinVar Detail
NM_000277.3(PAH):c.1183G>C (p.Ala395Pro) AND Phenylketonuria ClinVar Detail
We report two new patients with tetrahydrobiopterin (BH4)-responsive phenylketonuria and compare the... 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
rs62516103 dbSNP
Genome
hg19
Position
chr12:103,237,440-103,237,440
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8634
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)
121180
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.650437365901964E-5
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