ADAM17 - Gene browser | 3billion

ADAM17

ADAM17

ADAM metallopeptidase domain 17

HCNC Approved Symbol: ADAM17 (HGNC:195)
Genomic Coordinates: 2:9,488,486 - 9,555,830 (2p25.1)
Synonyms: cSVP, CD156B, TACE
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the ADAM17 gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

01
Patient count

Abnormal blistering of the skin: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Peeling skin: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

ADAM17 - Gene browser | 3billion