Variant #0000533855 (NC_000008.10:g.141407834G>A, NM_001160372.1:c.1019C>T (TRAPPC9))
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.141407834G>A |
DNA change (hg38) |
g.140397735G>A |
Published as |
TRAPPC9(NM_001160372.4):c.1019C>T (p.(Ala340Val)), TRAPPC9(NM_001321646.1):c.992C>T (p.A331V) |
ISCN |
- |
DB-ID |
TRAPPC9_000045 See all 2 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) |
0.00044 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2024-04-19 20:27:30 +02:00 (CEST) |

Variant on transcripts
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