The ABHD12 gene homepage
General information |
Gene symbol |
ABHD12 |
Gene name |
abhydrolase domain containing 12 |
Chromosome |
20 |
Chromosomal band |
p11.21 |
Imprinted |
Unknown |
Genomic reference |
NG_028119.1 |
Transcript reference |
NM_001042472.2, NM_015600.4 |
Associated with diseases |
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC) |
Citation reference(s) |
- |
Curators (1) |
Johan T. den Dunnen |
Total number of public variants reported |
322 |
Unique public DNA variants reported |
25 |
Individuals with public variants |
35 |
Hidden variants |
27 |
Date created |
November 30, -0001 |
Date last updated |
September 28, 2016 |
Version |
ABHD12:160928 |
Active transcripts
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