Variant #0000019239 (NC_000020.10:g.25340671_25399883delins[25390635_25390697;AAGAAACTTAACTTAACCCAACACTTAACTTAAC], ABHD12(NM_001042472.2):c.-28544_192-20684delins[GTTAAGTTAAGTGTTGGGTTAAGTTAAGTTTCTT;NM_021067.3:75+2104_75+2166])
Individual ID |
00001632 |
Chromosome |
20 |
Allele |
Maternal (confirmed) |
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.25340671_25399883delins[25390635_25390697;AAGAAACTTAACTTAACCCAACACTTAACTTAAC] |
DNA change (hg38) |
g.25360035_25419247delins[25409999_25410061;AAGAAACTTAACTTAACCCAACACTTAACTTAAC] |
Published as |
1-192_oGINS1:c.327+1052del |
ISCN |
- |
DB-ID |
ABHD12_000005 |
Variant remarks |
59 kb deletion |
Reference |
PubMed: Chen 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Dong-Hui Chen |
Database submission license |
No license selected |
Created by |
Dong-Hui Chen |

Variant on transcripts
Screenings
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