Variant #0000019461 (NC_000004.11:g.94118165_94124201del, NC_000004.11(NM_001698.2):c.?-30_418-?del (AUH))

Chromosome 4
Allele Paternal (inferred)
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.94118165_94124201del
DNA change (hg38) g.93197014_93203050del
Published as -
ISCN -
DB-ID AUH_000013 See all 4 reported entries
Variant remarks deletion of exons 1-3
Reference PubMed: Mercimek-Mahmutoglu et al. 2011
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Division of Human Genetics, Innsbruck
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2013-05-21 10:29:59 +02:00 (CEST)
Date last edited 2020-06-16 13:36:26 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
AUH NM_001698.2 ?/? 0_3i c.?-30_418-?del r.del p.?



Screenings

Stop! No screenings found!


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