Variant #0000079672 (NC_000018.9:g.48362664_78015180del, MC4R(NM_005912.2):c.-19975598_*9675920del)
Individual ID |
00050538 |
Chromosome |
18 |
Allele |
Unknown |
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.48362664_78015180del |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
ATP8B1_000025 See all 2 reported entries |
Variant remarks |
mosaicism, hemizygous in 0.46 cells |
Reference |
PubMed: DDDS 2015, Journal: DDDS 2015 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Somatic |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Variant not found in online data sets |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |

Variant on transcripts
Screenings
|
|