Variant #0000334954 (NC_000023.10:g.101910388C>G, ARMCX5(NM_022838.3):c.*51642C>G)
Chromosome |
X |
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.101910388C>G |
DNA change (hg38) |
g.102655460C>G |
Published as |
GPRASP1(NM_001099410.1):c.1547C>G (p.(Thr516Ser)) |
ISCN |
- |
DB-ID |
ARMCX5-GPRASP2_000009 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
0 |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00021 View details |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |

Variant on transcripts
|
|