Variant #0000909001 (NC_000018.9:g.10731459dup, NM_001378183.1:c.4981dup (PIEZO2))

Individual ID 00428071
Chromosome 18
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.10731459dup
DNA change (hg38) g.10731461=
Published as 4807dupA
ISCN -
DB-ID PIEZO2_000127
Variant remarks variant shared with unaffected mother
Reference PubMed: Paul 2023, Journal: Paul 2023
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-12-21 11:13:02 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIEZO2 NM_001378183.1 +/. - c.4981dup r.(?) p.(Arg1661LysfsTer27)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000429483 DNA SEQ;SEQ-NG - trio WES - 2 Johan den Dunnen


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