Variant #0000324374 (NC_000016.9:g.727043A>C, NM_005861.2:c.-3483A>C (STUB1))
Chromosome |
16 |
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.727043A>C |
DNA change (hg38) |
g.677043A>C |
Published as |
RHBDL1(NM_001278720.1):c.499A>C (p.(Lys167Gln)) |
ISCN |
- |
DB-ID |
RHBDL1_000002 |
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) |
Retrieve |
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 |
2020-08-06 14:59:34 +02:00 (CEST) |

Variant on transcripts
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