Variant #0000473809 (NC_000016.9:g.14020545_14020546del, NM_005236.2:c.516_517del (ERCC4))
Individual ID |
00230641 |
Chromosome |
16 |
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.14020545_14020546del |
DNA change (hg38) |
g.13926688_13926689del |
Published as |
516_517delTA |
ISCN |
- |
DB-ID |
ERCC4_000035 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
IMGAG |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
IMGAG |
Date created |
2019-04-17 11:01:04 +02:00 (CEST) |
Date last edited |
2019-04-18 11:59:50 +02:00 (CEST) |

Variant on transcripts
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