Home > Gene Browser > ISM2

ISM2

Synonyms
TAIL1, THSD3
External resources
Summary
The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed.

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
2,340
Likely benign
1,346
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ISM2 gene.

Phenotype class
Patients in 3billion (%)

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