Variant #0001007036 (NC_000016.9:g.2185612_2185622del, NM_001009944.2:c.71_81del (PKD1))

Individual ID 00453445
Chromosome 16
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.2185612_2185622del
DNA change (hg38) g.2135611_2135621del
Published as 69_79del
ISCN -
DB-ID PKD1_002956
Variant remarks -
Reference -
ClinVar ID ClinVar-3374704
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marketa Wayhelova
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marketa Wayhelova
Date created 2024-08-29 11:48:37 +02:00 (CEST)
Date last edited 2024-11-13 14:01:19 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict-BioInf     
PKD1 NM_001009944.2 +/. 1 c.71_81del r.(?) p.(Gly24Alafs*86) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000455059 DNA SEQ-NG-I peripheral blood CES - 1 Marketa Wayhelova


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