Variant #0000040539 (NC_000016.9:g.14041824_14041851dup, NM_005236.2:c.2371_2398dup (ERCC4))
Individual ID |
00020019 |
Chromosome |
16 |
Allele |
Maternal (confirmed) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.14041824_14041851dup |
DNA change (hg38) |
g.13947967_13947994dup |
Published as |
2371_2398dup28 |
ISCN |
- |
DB-ID |
ERCC4_000004 |
Variant remarks |
- |
Reference |
PubMed: Bogliolo 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Arleen D. Auerbach |
Database submission license |
No license selected |
Created by |
Arleen D. Auerbach |
Date created |
2013-06-19 04:23:32 +02:00 (CEST) |
Date last edited |
2014-10-03 21:58:05 +02:00 (CEST) |

Variant on transcripts
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