Variant #0000000958 (NC_000013.10:g.103519054G>T, ERCC5(NM_000123.3):c.2392G>T)
Individual ID |
00000958 |
Chromosome |
13 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.103519054G>T |
Reference |
Hijazi H1, Salih MA, Hamad MH, Hassan HH, Salih SB, Mohamed KA, Mukhtar MM, Karrar ZA, Ansari S, Ibrahim N, Alkuraya FS.(2015) |
DB-ID |
ERCC5_000001 See all 2 reported entries |
Frequency |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Y Yang |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Y Yang |
Variant on transcripts
Screenings
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