RGD:8595041 Rat Genome Database

Variant: RGD:8595041 - Homo sapiens

RGD ID:

8595041

RS ID:

rs62516151

ClinVar ID:

CV15622

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC124902999 PAH

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	12	103,288,604
GRCh38	12	102,894,826

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000012.12:g.102894826G>T NC_000012.11:g.103288604G>T NP_000268.1:p.Ser87Arg P00439:p.Ser87Arg More...	12/16/2019	missense\|missense variant	pathogenic\|likely pathogenic\|not provided	Folling disease; Hyperphenylalaninaemia; Hyperphenylalaninemia, non-pku; none provided; Oligophrenia phenylpyruvica; Phenylketonurias

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

phenylketonuria (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Hyperphenylalaninemia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PAH
Accession:	XM_017019370
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF THLDKRRLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQIPAVL *

Gene Symbol:	PAH
Accession:	NM_001354304
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF THLDKRRLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:	PAH
Accession:	NM_000277
Location:	EXON
Amino Acid Prediction:	S to R (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSTAVLENPGLGRKLSDFGQETSYIEDNCNQNGAISLIFSLKEEVGALAKVLRLFEENDVNLTHIESRPSRLKKDEYEFF THLDKRRLPALTNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELDRFANQILSYGAELDADHPGFKDPVYRARRKQ FADIAYNYRHGQPIPRVEYMEEEKKTWGTVFKTLKSLYKTHACYEYNHIFPLLEKYCGFHEDNIPQLEDVSQFLQTCTGF RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEK LATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSEKPKLLPLELEKTAIQNYTVTEFQPLYYVAESFNDAKEKVR NFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEIGILCSALQKIK*

Gene Symbol:	LOC124902999
Accession:	XR_007063428
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:8088845	PMID:8406445	PMID:10495930	PMID:15464430	PMID:17935162	PMID:23500595	PMID:23514811	PMID:25741868	PMID:26666653	PMID:27469133	PMID:28492532	PMID:31623983

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000000613	CLINVAR
	RCV000088884	CLINVAR
	RCV000763293	CLINVAR
	RCV002512609	CLINVAR
	RCV003934787	CLINVAR
dbSNP (RS)	rs62516151	CLINVAR
MedGen	C0031485	CLINVAR
	C0751435	CLINVAR
	C0950123	CLINVAR
	C3661900	CLINVAR
NCBI Gene	PAH	CLINVAR
OMIM	261600	CLINVAR
	612349	CLINVAR
OMIM Allele	612349.0057	CLINVAR
SNOMED CT	68528007	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:8595041 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8595041 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar