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BTLA

Synonyms
BTLA1, CD272
External resources
Summary
This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
617
Likely benign
608
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on BTLA gene.

Phenotype class
Patients in 3billion (%)

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