Variant #0000000624 (NC_000002.11:g.202619317_202619318delCT, ALS2(NM_020919.3):c.1548_1549delAG)
Individual ID |
00000624 |
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.202619317_202619318delCT |
Reference |
Hadano S1, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR(2001) |
DB-ID |
ALS2_000005 |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
|
|