Variant #0000268903 (NC_000016.9:g.14026162C>T, NC_000016.9(NM_005236.2):c.1102+20C>T (ERCC4))
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.14026162C>T |
DNA change (hg38) |
g.13932305C>T |
Published as |
ERCC4(NM_005236.3):c.1102+20C>T |
ISCN |
- |
DB-ID |
ERCC4_000023 |
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) |
5.0E-5 View details |
Owner |
VKGL-NL_VUmc |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_VUmc |
Date created |
2018-01-15 20:58:59 +01:00 (CET) |
Date last edited |
2023-01-11 15:44:22 +01:00 (CET) |

Variant on transcripts
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