Variant #0000001018 (NC_000005.9:g.78135241C>T, ARSB(NM_000046.3):c.1151G>A)
Individual ID |
00000027 |
Chromosome |
5 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.78135241C>T |
DNA change (hg38) |
g.78839418C>T |
Published as |
- |
ISCN |
- |
DB-ID |
ARSB_000001 See all 11 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.04282 View details |
Owner |
Gerard C.P. Schaafsma |
Database submission license |
No license selected |
Created by |
Gerard C.P. Schaafsma |

Variant on transcripts
Screenings
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