RGD:11605339 Rat Genome Database

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Summary

Variant: RGD:11605339 - Homo sapiens

RGD ID:

11605339

ClinVar ID:

CV306056

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CYCS

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	7	25,161,977
GRCh38	7	25,122,358

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
LRG_876t1:c.1343A>G NM_018947.5:c.1343A>G LRG_876:g.8004A>G NG_023438.1:g.8004A>G More...	06/14/2016	3 prime utr variant	uncertain significance	Low platelet count

Phenotype Annotations Click to see Annotation Detail View

Imported Human Phenotype Annotations - ClinVar

Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Thrombocytopenia		IAGP		8554872	ClinVar Annotator: match by term: Thrombocytopenia	ClinVar

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Thrombocytopenia (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	CYCS
Accession:	NM_018947
Location:	3UTRS;EXON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.