Variant #0000247666 (NC_000020.10:g.25304071A>G, ABHD12(NM_001042472.2):c.317-5T>C)
Chromosome |
20 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.25304071A>G |
DNA change (hg38) |
g.25323435A>G |
Published as |
ABHD12(NM_001042472.3):c.317-5T>C |
ISCN |
- |
DB-ID |
ABHD12_000022 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
VKGL-NL_AMC |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_AMC |

Variant on transcripts
|
|