Variant #0000873899 (NC_000005.9:g.78135241C>T, NM_000046.3:c.1151G>A (ARSB))
| Individual ID |
00414704 |
| Chromosome |
5 |
| 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.78135241C>T |
| DNA change (hg38) |
g.78839418C>T |
| Published as |
ARSB 5:78170997 (hg18) het CM003999 9.6% |
| ISCN |
- |
| DB-ID |
ARSB_000001 See all 11 reported entries |
| Variant remarks |
non-causative, heterozygous |
| Reference |
PubMed: Bell 2011 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
? |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
0.04282 View details |
| Owner |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-08-02 11:28:48 +02:00 (CEST) |
| Date last edited |
2022-08-02 11:29:17 +02:00 (CEST) |

Variant on transcripts
Screenings
|