Variant #0000183317 (NC_000023.10:g.38280206C>T, NC_000023.10(NM_000531.5):c.1006-70C>T (OTC))
Individual ID |
00113124 |
Chromosome |
X |
Allele |
Parent #1 |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.38280206C>T |
DNA change (hg38) |
g.38420953C>T |
Published as |
- |
ISCN |
- |
DB-ID |
OTC_000259 See all 8 reported entries |
Variant remarks |
- |
Reference |
PubMed: Azevedo 2003 |
ClinVar ID |
- |
dbSNP ID |
rs12557315 |
Origin |
Germline |
Segregation |
- |
Frequency |
24/103 |
Re-site |
HphI;EcoNI;BsiYI |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2006-10-29 12:30:00 +01:00 (CET) |
Date last edited |
2006-10-29 22:07:47 +01:00 (CET) |

Variant on transcripts
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