Variant #0000825384 (NC_000007.13:g.142458451A>C, NM_002769.4:c.86A>C (PRSS1))

Individual ID 00393220
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.142458451A>C
DNA change (hg38) g.142750600A>C
Published as p.N29T
ISCN -
DB-ID PRSS1_000008 See all 4 reported entries
Variant remarks The variant was reported at the protein level only
Reference PubMed: Rosendahl 2013, Journal: Rosendahl 2013
ClinVar ID ClinVar-38366
dbSNP ID rs111033566
Origin Germline
Segregation ?
Frequency 1/660 cases
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Hasan Bas
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Hasan Bas
Date created 2021-11-27 21:14:36 +01:00 (CET)
Date last edited 2022-02-24 10:55:17 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRSS1 NM_002769.4 +/. 2 c.86A>C r.(?) p.(Asn29Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000394468 DNA SEQ blood - CFTR, CTRC, PRSS1, SPINK1 1 Hasan Bas


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