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12:103234194:-/A
GRCh37/hg19 position 12:103234194
GRCh38/hg38 position 12:102840416
Alleles (ref/alt) -/A
dbSNP rsid rs1057516377
Gene symbol

PAH
Most severe consequence frameshift_variant
Flanking sequence TGTAAATTACTTACTGTTAATGGAATCAGCC[-/A]AAAATCTTAAGCTGCTGGGTATTGTCCAAGA
HGVS

NM_000277.3:c.1298dup

NM_001354304.2:c.1298dup

NP_000268.1:p.Leu433PhefsTer3

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Gene annotations
Transcript Gene Exon number Consequence HGVS cDNA HGVS protein Location Protein location
NM_000277.3 PAH 13 frameshift_variant c.1298dup p.Leu433PhefsTer3 Exon 12
NM_001354304.2 PAH 14 frameshift_variant c.1298dup p.Leu433PhefsTer3 Exon 13
Population frequency
Select populations: ALL LWK MKK YRI EUR FIN NFE CEU ASJ TSI EAS SAS CHB HAN CHD JPT AFR AMR ASW GIH MEX OTH
Database Population AC AN Hom AF
Conservation
Conservation scores are retrieved from UCSC genome browser. The conservation levels are defined by simple cutoff values. If the conservation levels do not agree with each other, you can manually check whether this variant is conserved with UCSC genome browser.
Method Score Level
ClinVar
Accession Clinical significance Date last evaluated Review status Method Disease name Disease symbol Disease inheritance Pubmed
RCV000410563 Likely pathogenic 2015-12-31 criteria provided, single submitter clinical testing Phenylketonuria PKU - -
InterVar

InterVar is a software tool for clinical interpretation of genetic variants by the ACMG/AMP 2015 guideline. The eveidence tags that variant met are highlighted. Please note that evidence tags with need to be evaluated manually.

Class: Pathogenic
Benign Pathogenic
Strong Supporting Supporting Moderate Strong Very Strong
Population data BA1
BS1
BS2 		PM2 PS4
Computational and predictive data BP1
BP3
BP4
BP7 		PP3 PM4
PM5		 PS1 PVS1
Functional data BS3 PP2 PM1 PS3
Segregation data BS4 PP1 PP1 PP1
De novo data PM6 PS2
Allelic data BP2 PM3
Other database BP6 PP5
Other data BP5 PP4
Amino acid change

The physichemical property of amino acid change.

Trait Leu (L) PhefsTer
Amino acid name Leucine -
Side chain class aliphatic -
Polarity nonpolar -
Charge (pH=7.4) neutrally charged -
Hydropathy hydrophobic -
Molecular weight 131.175 -
gnomAD
The Genome Aggregation Database (gnomAD), is a coalition of investigators seeking to aggregate and harmonize exome and genome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. In its first release, which contained exclusively exome data, it was known as the Exome Aggregation Consortium (ExAC).