Variant #0000521213 (NC_000004.11:g.113568423_113568425del, C4orf21(NM_018392.4):c.-10480_-10478del)
Chromosome |
4 |
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.113568423_113568425del |
DNA change (hg38) |
g.112647267_112647269del |
Published as |
LARP7(NM_001267039.1):c.731_733del (p.(Glu246del)), LARP7(NM_001267039.1):c.736_738delGAA (p.E246del) |
ISCN |
- |
DB-ID |
C4orf21_000006 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) |
Retrieve |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2021-09-17 14:40:49 +02:00 (CEST) |

Variant on transcripts
|
|