Variant #0000332220 (NC_000008.10:g.100147957A>G, NM_017890.3:c.1559A>G (VPS13B))
Chromosome |
8 |
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.100147957A>G |
DNA change (hg38) |
g.99135729A>G |
Published as |
VPS13B(NM_015243.2):c.1559A>G (p.(His520Arg)), VPS13B(NM_017890.4):c.1559A>G (p.H520R), VPS13B(NM_017890.5):c.1559A>G (p.H520R) |
ISCN |
- |
DB-ID |
VPS13B_000192 See all 3 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) |
0.00057 View details |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2024-04-19 20:27:30 +02:00 (CEST) |

Variant on transcripts
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