ConVarT

CTSH (GeneID: 740462) | Pan troglodytes

Description:	cathepsin H [Source:VGNC Symbol;Acc:VGNC:2480]
Synonyms:
Other ID(s):	ENSPTRG00000007352
Protein Accession Numbers:	XP_009427928, XP_009427926, XP_016782754, XP_001153217
Statistics:

∙ 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.
ENST00000220166 ENST00000525807 ENST00000528741 ENST00000529861 ENST00000533777 NP_001306066 You are here now! NP_004381

ClinVar Data

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

gnomAD

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
No data available in table

Showing 0 to 0 of 0 entries

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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**
Diabetes Mellitus, Insulin-Dependent	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.663	0.517
Leukemia, Myelocytic, Acute	Neoplasms ;	0.663	0.517
Acute Myeloid Leukemia, M1	Neoplasms ;	0.663	0.517
Narcolepsy	Nervous System Diseases ; Mental Disorders ;	0.663	0.517
Diabetes, Autoimmune	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.663	0.517
Brittle diabetes	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.663	0.517
Narcolepsy-Cataplexy Syndrome	Nervous System Diseases ; Mental Disorders ;	0.663	0.517
Colorectal Cancer	Neoplasms ; Digestive System Diseases ;	0.663	0.517
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.663	0.517
Diabetes Mellitus, Ketosis-Prone	Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ;	0.663	0.517
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data