Variant #0000521218 (NC_000004.11:g.113570721T>A, C4orf21(NM_018392.4):c.-12781A>T)
Chromosome |
4 |
Allele |
Unknown |
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.113570721T>A |
DNA change (hg38) |
g.112649565T>A |
Published as |
- |
ISCN |
- |
DB-ID |
C4orf21_000011 |
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_Nijmegen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Nijmegen |
Date created |
2019-07-18 18:22:55 +02:00 (CEST) |
Date last edited |
2022-11-01 13:01:21 +01:00 (CET) |

Variant on transcripts
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