Variant #0000564429 (NC_000018.9:g.28935272G>A, NM_001942.2:c.3113G>A (DSG1))
Chromosome |
18 |
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.28935272G>A |
DNA change (hg38) |
g.31355309G>A |
Published as |
DSG1(NM_001942.2):c.3113G>A (p.(Arg1038Gln)), DSG1(NM_001942.3):c.3113G>A (p.R1038Q) |
ISCN |
- |
DB-ID |
DSG1_000021 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) |
3.0E-5 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 |
2024-08-28 13:16:32 +02:00 (CEST) |

Variant on transcripts
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