rs55744193 Rat Genome Database

Variant: rs55744193 - Homo sapiens

RGD ID:

10411754

RS ID:

rs55744193

ClinVar ID:

CV188095

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

C10orf55 PLAU

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	10	75,672,059
GRCh38	10	73,912,301

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
LRG_593t1:c.172G>A LRG_593:g.6198G>A NG_011904.1:g.6198G>A NC_000010.11:g.73912301G>A More...	02/21/2019	5 prime utr variant\|missense variant	benign\|likely benign\|uncertain significance	infancy\|neonatal	1-9 / 1 000 000\|1-9 / 100 000	BLEEDING DISORDER, PLATELET-TYPE, 5; Factor V Quebec; Hirschsprung disease 1; HSCR 1; none provided; RET-Related Hirschsprung Disease

Disease Annotations Click to see Annotation Detail View

Hirschsprung's disease (IAGP)

Quebec platelet disorder (IAGP)

GWAS Catalog Data

GWAS Catalog Study	Disease Trait	Study Size	Risk Allele	Risk Allele Frequency	P Value	P Value MLOG	SNP Passing QC	Reported Odds Ratio or Beta-coefficient	Ontology Accession	PubMed
GCST90243298	Urokinase-type plasminogen activator levels (PLAU.4158.54.2)	3,301 European ancestry individuals	A	0.007	9E-20	19.045757490560675	Affymetrix [10572788] (imputed)	1.36	urokinase-type plasminogen activator measurement (EFO:0010803)	PMID:29875488
GCST90088614	Serum levels of protein PLAU	5,348 Icelandic ancestry individuals	A	0.01255	2E-96	95.69897000433602	Illumina [7506463] (imputed)	1.64801	blood protein measurement (EFO:0007937)	PMID:35078996

Variant Details

Variant Transcripts

Gene Symbol:	PLAU
Accession:	NM_001319191
Location:	5UTRS;EXON

Gene Symbol:	PLAU
Accession:	NM_001145031
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	41

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVFHLRTRYEQANCDCLNGGTCVSNKYFSNIHWCNCPKKFRGQHCEIDKSKTCYEGNGHFYRGKASTDTMGRPCLPWNSA TVLQQTYHAHRSDALQLGLGKHNYCRNPDNRRRPWCYVQVGLKLLVQECMVHDCADGKKPSSPPEELKFQCGQKTLRPRF KIIGGEFTTIENQPWFAAIYRRHRGGSVTYVCGGSLISPCWVISATHCFIDYPKKEDYIVYLGRSRLNSNTQGEMKFEVE NLILHKDYSADTLAHHNDIALLKIRSKEGRCAQPSRTIQTICLPSMYNDPQFGTSCEITGFGKENSTDYLYPEQLKMTVV KLISHRECQQPHYYGSEVTTKMLCAADPQWKTDSCQGDSGGPLVCSLQGRMTLTGIVSWGRGCALKDKPGVYTRVSHFLP WIRSHTKEENGLAL*

Gene Symbol:	PLAU
Accession:	NM_002658
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	58

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRALLARLLLCVLVVSDSKGSNELHQVPSNCDCLNGGTCVSNKYFSNIHWCNCPKKFRGQHCEIDKSKTCYEGNGHFYRG KASTDTMGRPCLPWNSATVLQQTYHAHRSDALQLGLGKHNYCRNPDNRRRPWCYVQVGLKLLVQECMVHDCADGKKPSSP PEELKFQCGQKTLRPRFKIIGGEFTTIENQPWFAAIYRRHRGGSVTYVCGGSLISPCWVISATHCFIDYPKKEDYIVYLG RSRLNSNTQGEMKFEVENLILHKDYSADTLAHHNDIALLKIRSKEGRCAQPSRTIQTICLPSMYNDPQFGTSCEITGFGK ENSTDYLYPEQLKMTVVKLISHRECQQPHYYGSEVTTKMLCAADPQWKTDSCQGDSGGPLVCSLQGRMTLTGIVSWGRGC ALKDKPGVYTRVSHFLPWIRSHTKEENGLAL*

Gene Symbol:	PLAU
Accession:	XM_047425353
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	58

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRALLARLLLCVLVVSDSKGSNELHQVPSNCDCLNGGTCVSNKYFSNIHWCNCPKKFRGQHCEIDKSKTCYEGNGHFYRG KASTDTMGRPCLPWNSATVLQQTYHAHRSDALQLGLGKHNYCRNPDNRRRPWCYVQVGLKLLVQECMVHDCADGKKPSSP PEELKFQCGQKTLRPRFKIIGGEFTTIENQPWFAAIYRRHRGGSVTYVCGGSLISPCWVISATHCFIDYPKKEDYIVYLG RSRLNSNTQGEMKFEVENLILHKDYSADTLAHHNDIALLKIRSKEGRCAQPSRTIQTICLPSMYNDPQFGTSCEITGFGK ENSTDYLYPEQLKMTVVKLISHRECQQPHYYGSEVTTKMLCAADPQWKTDSCQGDSGGPLVCSLQGRMTLTGIVSWGRGC ALKDKPGVYTRVSHFLPWIRSHTKEENGLAL*

Gene Symbol:	PLAU
Accession:	XM_011539866
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	58

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRALLARLLLCVLVVSDSKGSNELHQVPSNCDCLNGGTCVSNKYFSNIHWCNCPKKFRGQHCEIDKSKTCYEGNGHFYRG KASTDTMGRPCLPWNSATVLQQTYHAHRSDALQLGLGKHNYCRNPDNRRRPWCYVQVGLKLLVQECMVHDCADGKKPSSP PEELKFQCGQKTLRPRFKIIGGEFTTIENQPWFAAIYRRHRGGSVTYVCGGSLISPCWVISATHCFIDYPKKEDYIVYLG RSRLNSNTQGEMKFEVENLILHKDYSADTLAHHNDIALLKIRSKEGRCAQPSRTIQTICLPSMYNDPQFGTSCEITGFGK ENSTDYLYPEQLKMTVVKLISHRECQQPHYYGSEVTTKMLCAADPQWKTDSCQGDSGGPLVCSLQGRMTLTGIVSWGRGC ALKDKPGVYTRVSHFLPWIRSHTKEENGLAL*

Gene Symbol:	C10orf55
Accession:	NR_160938
Location:	INTRON;NON-CODING

Gene Symbol:	C10orf55
Accession:	NR_160937
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

GWAS Catalog GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000201293	CLINVAR
	RCV000365591	CLINVAR
	RCV000971917	CLINVAR
dbSNP (RS)	rs55744193	CLINVAR
GWAS Catalog	GCST005806	GWAS Catalog
MedGen	C1866423	CLINVAR
	C3661900	CLINVAR
	C3888239	CLINVAR
NCBI Gene	C10orf55	CLINVAR
	PLAU	CLINVAR
OMIM	142623	CLINVAR
	191840	CLINVAR
	601709	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)

Create Name:

Description:

Send us a Message

Variant: rs55744193 - Homo sapiens

Imported Disease Annotations - ClinVar