Variant #0000078643 (NC_000018.9:g.10689744G>A, NM_001378183.1:c.7406C>T (PIEZO2))

Individual ID 00049817
Chromosome 18
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.10689744G>A
DNA change (hg38) g.10689746G>A
Published as -
ISCN -
DB-ID PIEZO2_000012 See all 3 reported entries
Variant remarks -
Reference PubMed: McMillin 2014, Journal: McMillin 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
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 2015-09-12 18:49:49 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PIEZO2 NM_001378183.1 +?/. - c.7406C>T r.(?) p.(Thr2469Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000049738 DNA SEQ - - PIEZO2 1 Johan den Dunnen


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