Variant #0000734041 (NC_000005.9:g.147510821G>A, NC_000005.9(NM_001127698.1):c.3055-1G>A (SPINK5))

Individual ID 00334316
Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.147510821G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID SPINK5_000091
Variant remarks -
Reference PubMed: Luo 2021, Journal: Luo 2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Liu Wenbing
Database submission license No license selected
Created by Liu Wenbing
Date created 2021-02-27 08:25:30 +01:00 (CET)
Date last edited 2022-05-26 13:18:57 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SPINK5 NM_001127698.1 ?/. - c.3055-1G>A r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000335544 DNA SEQ-NG PBMC WES - 3 Liu Wenbing


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