Variant #0000616234 (NC_000016.9:g.88804765T>C, NM_001142864.2:c.718A>G (PIEZO1))

Chromosome 16
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.88804765T>C
DNA change (hg38) g.88738357T>C
Published as PIEZO1(NM_001142864.4):c.718A>G (p.I240V)
ISCN -
DB-ID PIEZO1_000212
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00082 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
Date created 2019-12-04 15:24:38 +01:00 (CET)
Date last edited 2020-03-23 16:13:27 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CTU2 NM_001012762.1 -?/. - c.*23137T>C r.(=) p.(=)
PIEZO1 NM_001142864.2 -?/. - c.718A>G r.(?) p.(Ile240Val)


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