Variant #0000040536 (NC_000016.9:g.14041518C>A, NM_005236.2:c.2065C>A (ERCC4))
Individual ID |
00020018 |
Chromosome |
16 |
Allele |
Parent #1 |
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.14041518C>A |
DNA change (hg38) |
g.13947661C>A |
Published as |
- |
ISCN |
- |
DB-ID |
ERCC4_000001 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Bogliolo 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
1.0E-5 View details |
Owner |
Arleen D. Auerbach |
Database submission license |
No license selected |
Created by |
Arleen D. Auerbach |
Date created |
2013-06-19 04:10:48 +02:00 (CEST) |
Date last edited |
2014-10-03 21:59:17 +02:00 (CEST) |

Variant on transcripts
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