Variant #0000374827 (NC_000010.10:g.56424010del, NM_033056.3:c.16del (PCDH15))

Individual ID 00166248
Chromosome 10
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.56424010del
DNA change (hg38) g.54664250del
Published as -
ISCN -
DB-ID PCDH15_000070
Variant remarks heterozygous
Reference PubMed: Ouyang 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Anne-Françoise Roux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anne-Françoise Roux
Date created 2010-03-05 11:21:07 +01:00 (CET)
Date last edited 2020-06-26 15:35:52 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCDH15 NM_001384140.1 +/+ - c.16del r.(?) p.(Tyr6IlefsTer6)
PCDH15 NM_033056.3 +/+ 2 c.16del r.(?) p.(Tyr6Ilefs*6)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000167127 DNA SEQ - - - 1 Anne-Françoise Roux


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