Variant #0000091136 (NC_000020.10:g.25304045_25304046delinsAAA, ABHD12(NM_001042472.2):c.337_338delinsTTT)
Individual ID |
00059901 |
Chromosome |
20 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.25304045_25304046delinsAAA |
DNA change (hg38) |
g.25323409_25323410delinsAAA |
Published as |
337_338delGAinsTTT [Asp113PhefsX15] |
ISCN |
- |
DB-ID |
ABHD12_000001 See all 9 reported entries |
Variant remarks |
- |
Reference |
PubMed: Fiskerstrand 2010, Journal: Fiskerstrand 2010 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Jacopo Celli |
Database submission license |
No license selected |
Created by |
Jacopo Celli |

Variant on transcripts
Screenings
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