Variant #0000673924 (NC_000016.9:g.14028081C>T, NM_005236.2:c.1135C>T (ERCC4))
Individual ID |
00306178 |
Chromosome |
16 |
Allele |
Parent #2 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.14028081C>T |
DNA change (hg38) |
g.13934224C>T |
Published as |
- |
ISCN |
- |
DB-ID |
ERCC4_000037 See all 8 reported entries |
Variant remarks |
- |
Reference |
PubMed: Ahmad 2010 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00396 View details |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2020-07-10 17:09:03 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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