ConVarT

sorl1 (GeneID: 100490681) | Xenopus tropicalis

Description:	sortilin-related receptor, L(DLR class) A repeats containing [Source:ZFIN;Acc:ZDB-GENE-050208-22]
Synonyms:
Other ID(s):	XB-GENE-995776
Protein Accession Numbers:	XP_012822697
Statistics:	ClinVar(75)

ClinVar Pathogenicity of Variations

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000260197 ENST00000525532 ENST00000527934 ENST00000532694 ENST00000534286 NP_003096 You are here now!

ClinVar Data

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter

Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Alzheimer's Disease	Nervous System Diseases ; Mental Disorders ;	0.619	0.483
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.619	0.483
Cholestasis	Digestive System Diseases ;	0.619	0.483
Presenile dementia	Nervous System Diseases ; Mental Disorders ;	0.619	0.483
Hepatitis, Toxic	Digestive System Diseases ; Chemically-Induced Disorders ;	0.619	0.483
Neoplasm Invasiveness	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.619	0.483
Familial Alzheimer Disease (FAD)	Nervous System Diseases ; Mental Disorders ;	0.619	0.483
Alzheimer Disease, Late Onset	Nervous System Diseases ; Mental Disorders ;	0.619	0.483
Acute Confusional Senile Dementia	Nervous System Diseases ; Mental Disorders ;	0.619	0.483
Alzheimer's Disease, Focal Onset	Nervous System Diseases ; Mental Disorders ;	0.619	0.483
Alzheimer Disease, Early Onset	Nervous System Diseases ; Mental Disorders ;	0.619	0.483
Drug-Induced Liver Disease	Digestive System Diseases ; Chemically-Induced Disorders ;	0.619	0.483
Hepatitis, Drug-Induced	Digestive System Diseases ; Chemically-Induced Disorders ;	0.619	0.483
Colorectal Cancer	Neoplasms ; Digestive System Diseases ;	0.619	0.483
PRESENILE AND SENILE DEMENTIA	Nervous System Diseases ; Mental Disorders ;	0.619	0.483
ALZHEIMER DISEASE, FAMILIAL, 1	Nervous System Diseases ; Mental Disorders ;	0.619	0.483
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy	Nervous System Diseases ; Mental Disorders ;	0.619	0.483
ALZHEIMER DISEASE, PROTECTION AGAINST	N/A	0.619	0.483
Drug-Induced Acute Liver Injury	Digestive System Diseases ; Chemically-Induced Disorders ;	0.619	0.483
Chemical and Drug Induced Liver Injury	Digestive System Diseases ; Chemically-Induced Disorders ;	0.619	0.483
Chemically-Induced Liver Toxicity	Digestive System Diseases ; Chemically-Induced Disorders ;	0.619	0.483
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data