Variant #0001001888 (NC_000016.9:g.14041570T>C, NM_005236.2:c.2117T>C (ERCC4))
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.14041570T>C |
DNA change (hg38) |
- |
Published as |
ERCC4(NM_005236.2):c.2117T>C (p.(Ile706Thr)), ERCC4(NM_005236.3):c.2117T>C (p.I706T) |
ISCN |
- |
DB-ID |
ERCC4_000028 See all 2 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) |
0.00145 View details |
Owner |
VKGL-NL_Leiden |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Leiden |
Date created |
2024-08-28 13:16:32 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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