Genomic variant #0000064357

Individual ID 00037162
Chromosome 5
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.147207714T>A
DNA change (hg38) g.147828151T>A
Published as -
ISCN -
DB-ID SPINK1_000003
Variant remarks in a patient in combination with PRSS1 pathogenic mutation p.Arg122His
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00254 View details
Owner Andreas Laner
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
SPINK1 NM_003122.3 -/. - c.88-23A>T - r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000037232 DNA SEQ - - SPINK1 1 Andreas Laner