Carrier of a DBP deficiency mutation |
Is a | genotype |
of | rs137853096 |
Gene | HSD17B4 |
Chromosome | 5 |
Position | 119,452,621 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(A;A) | 7 | DBP deficiency (predicted) |
(A;G) | 3 | Carrier of a DBP deficiency mutation |
(G;G) | 0 | common in clinvar |
Unaffected in absence of a second HSD17B4 gene mutation