RGD:8596218 Rat Genome Database

Variant: RGD:8596218 - Homo sapiens

RGD ID:

8596218

RS ID:

rs121908020

ClinVar ID:

CV18805

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

UROS

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	127,477,562
GRCh38	10	125,788,993

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	Age of Onset	Prevalence	Trait Synonyms
NC_000010.11:g.125788993C>T NC_000010.10:g.127477562C>T NP_000366.1:p.Gly225Ser P10746:p.Gly225Ser More...	10/11/2021	intron variant\|missense variant	pathogenic	all ages\|variable	<1 / 1 000 000	Congenital erythropoietic porphyria; Congenital porphyria; GUNTHER DISEASE; Günther disease; none provided; Porphyria, Erythropoietic; UROPORPHYRINOGEN III SYNTHASE DEFICIENCY; Uroporphyrinogen III synthase, deficiency of

Disease Annotations Click to see Annotation Detail View

cutaneous porphyria (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	UROS
Accession:	NM_001324038
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	198

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRIAMESITVYQTVAHPGIQGNLNSYYSQQ GVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFAAISPTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	NM_001324036
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	252

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGI AMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKTQGPQHPKKNCLQLEPLRKD CTDTAVMFAAISPTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	XM_024448154
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGI AMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFAAISPTTARALAAQGLPVS CTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	NM_000375
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGI AMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKFAAISPTTARALAAQGLPVS CTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	NM_001324037
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRIAMESITVYQTVAHPGIQGNLNSYYSQQ GVPASITFFSPSGLTYSLKHIQELSGDNIDQIKTQGPQHPKKNCLQLEPLRKDCTDTAVMFAAISPTTARALAAQGLPVS CTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	XM_017016611
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	252

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRESSALPLLFPCGNLKREILPKALKDKGI AMESITVYQTVAHPGIQGNLNSYYSQQGVPASITFFSPSGLTYSLKHIQELSGDNIDQIKTQGPQHPKKNCLQLEPLRKD CTDTAVMFAAISPTTARALAAQGLPVSCTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	XM_047425708
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	225

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKVLLLKDAKEDDCGQDPYIRELGLYGLEATLIPVLSFEFLSLPSFSEKLSHPEDYGGLIFTSPRAVEAAELCLEQNNKT EVWERSLKEKWNAKSVYVVGNATASLVSKIGLDTEGETCGNAEKLAEYICSRIAMESITVYQTVAHPGIQGNLNSYYSQQ GVPASITFFSPSGLTYSLKHIQELSGDNIDQIKTQGPQHPKKNCLQLEPLRKDCTDTAVMFAAISPTTARALAAQGLPVS CTAESPTPQALATGIRKALQPHGCC*

Gene Symbol:	UROS
Accession:	NR_136676
Location:	EXON;NON-CODING

Gene Symbol:	UROS
Accession:	NR_136678
Location:	EXON;NON-CODING

Gene Symbol:	UROS
Accession:	NR_136675
Location:	EXON;NON-CODING

Gene Symbol:	UROS
Accession:	XM_024448155
Location:	INTRON

Gene Symbol:	UROS
Accession:	XM_047425709
Location:	INTRON

Gene Symbol:	UROS
Accession:	XM_047425710
Location:	INTRON

Gene Symbol:	UROS
Accession:	XM_047425711
Location:	INTRON

Gene Symbol:	UROS
Accession:	XM_005270140
Location:	INTRON

Gene Symbol:	UROS
Accession:	NM_001324039
Location:	INTRON

Gene Symbol:	UROS
Accession:	XM_017016612
Location:	INTRON

Gene Symbol:	UROS
Accession:	XM_011540127
Location:	INTRON

Gene Symbol:	UROS
Accession:	XR_007061986
Location:	INTRON;NON-CODING

Gene Symbol:	UROS
Accession:	XR_007061985
Location:	INTRON;NON-CODING

Gene Symbol:	UROS
Accession:	NR_136677
Location:	INTRON;NON-CODING

Gene Symbol:	UROS
Accession:	XR_001747196
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:7860775	PMID:11254675	PMID:16365260	PMID:19099412	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000003964	CLINVAR
	RCV001851635	CLINVAR
dbSNP (RS)	rs121908020	CLINVAR
MedGen	C0162530	CLINVAR
	C3661900	CLINVAR
NCBI Gene	UROS	CLINVAR
OMIM	263700	CLINVAR
	606938	CLINVAR
OMIM Allele	606938.0017	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)

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Variant: RGD:8596218 - Homo sapiens

Imported Disease Annotations - ClinVar