Variant #0000518269 (NC_000003.11:g.148903153G>A, NM_032383.3:c.*13144G>A (HPS3))
Chromosome |
3 |
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.148903153G>A |
DNA change (hg38) |
g.149185366G>A |
Published as |
CP(NM_000096.3):c.2158C>T (p.R720W), CP(NM_000096.4):c.2158C>T (p.(Arg720Trp), p.R720W) |
ISCN |
- |
DB-ID |
CP_000026 See all 5 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00022 View details |
Owner |
VKGL-NL_VUmc |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_VUmc |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2025-05-05 21:14:00 +02:00 (CEST) |

Variant on transcripts
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