Variant #0000713585 (NC_000020.10:g.25319986G>A, ABHD12(NM_001042472.2):c.193C>T)
Individual ID |
00328247 |
Chromosome |
20 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.25319986G>A |
DNA change (hg38) |
- |
Published as |
20:25319986G>A ENST00000376542.3:c.193C>T (Arg65Ter) |
ISCN |
- |
DB-ID |
ABHD12_000036 See all 3 reported entries |
Variant remarks |
- |
Reference |
PubMed: Carss 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
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