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 InternationalCreative Commons License
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)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
OTC NM_000531.5 -/. 9i c.1006-70C>T r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000113582 DNA SEQ - - OTC 2 Johan den Dunnen


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.