Variant #0000036537 (NC_000018.9:g.10671606_10671608del, NM_001378183.1:c.8520_8522del (PIEZO2))

Individual ID 00016703
Chromosome 18
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Effect unknown
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.10671606_10671608del
DNA change (hg38) g.10671609_10671611del
Published as -
ISCN -
DB-ID PIEZO2_000015
Variant remarks -
Reference PubMed: Coste 2013
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-05-27 10:18:38 +02:00 (CEST)
Date last edited 2020-07-14 16:32:33 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIEZO2 NM_001378183.1 +/. - c.8520_8522del r.(?) p.(Glu2840del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000016667 DNA SEQ - - PIEZO2 1 Marianne Vos (LOVD-team)


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