Variant #0000002447 (NC_000007.14:g.6117A>T, NM_002769.5:c.86A>T (PRSS1))

Individual ID 00000533
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.6117A>T
Published as -
Reference Kek Heng Chua et al.(2011)
DB-ID PRSS1_000002 See all 3 reported entries
dbSNP ID rs111033566
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-03-22 10:09:53 +08:00 (CST)
Date last edited 2021-08-01 13:29:10 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
PRSS1 NM_002769.5 +/. - c.86A>T N291 r.(?) p.(Asn29Ile) Pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000581 DNA PCR;SEQ PRSS1 2 Nur Aisyah Athirah