Variant #0000076070 (NC_000013.10:g.115091085C>T, NM_032436.2:c.1768C>T (CHAMP1))

Individual ID 00047292
Chromosome 13
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.115091085C>T
DNA change (hg38) g.114325610C>T
Published as -
ISCN -
DB-ID CHAMP1_000003
Variant remarks -
Reference PubMed: Hempel 2015, Journal: Hempel 2015
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Davor Lessel
Database submission license No license selected
Created by Davor Lessel
Date created 2015-08-13 17:56:41 +02:00 (CEST)
Date last edited 2015-09-13 21:51:03 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHAMP1 NM_032436.2 +?/. 3 c.1768C>T r.(?) p.(Gln590*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000047392 DNA SEQ-NG-S whole-blood - CHAMP1 1 Davor Lessel


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