Variant #0001040773 (NC_000016.9:g.14029554C>T, NM_005236.2:c.1765C>T (ERCC4))
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.14029554C>T |
DNA change (hg38) |
- |
Published as |
ERCC4(NM_005236.3):c.1765C>T (p.(Arg589Trp)) |
ISCN |
- |
DB-ID |
ERCC4_000052 See all 7 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) |
6.0E-5 View details |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2025-05-05 21:14:00 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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