Variant #0000096858 (NC_000010.10:g.27798806T>A, NM_001256410.1:c.71T>A (RAB18))
Individual ID |
00065049 |
Chromosome |
10 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.27798806T>A |
DNA change (hg38) |
g.27509877T>A |
Published as |
- |
ISCN |
- |
DB-ID |
RAB18_000001 See all 10 reported entries |
Variant remarks |
- |
Reference |
PubMed: Gillespie 2014, Journal: Gillespie 2014 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2016-05-15 22:31:50 +02:00 (CEST) |
Date last edited |
2016-05-15 22:32:41 +02:00 (CEST) |

Variant on transcripts
Screenings
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