Data Sharing Resources
GenomeConnect
Events
Contact
Toggle navigation
Navigation
Get Started
About Us
Curation Activities
Gene-Disease Validity
Training Materials
Browse Curations
Variant Pathogenicity
Training Materials
Browse Curations
Clinical Actionability
Training Materials
Browse Curations
Dosage Sensitivity
Training Materials
Browse Curations
Browse All ClinGen's Curated Genes
Working Groups
Expert Panels
Documents
& Announcements
Tools
Search:
Gene
Gene
Disease
Variant
Website Search
Browse Curations
About ClinGen's Curation Activities
Browse
All Curated Genes
Browse
Gene-Disease Validity
Browse
Dosage Sensitivity
Browse
Clinical Actionability
Browse
Variant Pathogenicity
AASS
Name
AASS
HGNC ID
HGNC:17366
Cytogenetic Location
7q31.32
Haploinsufficiency
Associated with Autosomal Recessive Phenotype
External Resources
View external resources
ClinVar Variants
View ClinVar Variants
GeneReviews®
View GeneReviews
ClinGen's Curation Summaries
External Genomic Resources
ClinVar Variants
AASS
-
hyperlysinemia (disease)
| MONDO:0009388
Curated by
Classification
Date
Report
Gene-Disease Validity
Moderate
11/08/2019
View report
AASS
Curated by
Classification
Date
Report
Gene Dosage Sensitivity
Gene Associated with Autosomal Recessive Phenotype
10/16/2018
View report
Send Feedback