Variant #0000819294 (NC_000007.13:g.142458451A>C, NM_002769.4:c.86A>C (PRSS1))

Individual ID 00388708
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 -
ISCN -
DB-ID PRSS1_000008 See all 4 reported entries
Variant remarks -
Reference PubMed: Murali 2021, Journal: Murali 2021
ClinVar ID ClinVar-38366
dbSNP ID rs111033566
Origin Germline
Segregation -
Frequency 1/189 kindreds
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 2021-11-06 21:48:08 +01:00 (CET)
Date last edited 2022-02-24 10:55:17 +01:00 (CET)
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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     
0000389951 DNA ?;SEQ;SEQ-NG;- - - - 1 Hasan Bas


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