Variant #0000374912 (NC_000010.10:g.56109539_56191483dup, NC_000010.10(NM_033056.3):c.158-52781_475-3295dup (PCDH15))

Individual ID 00166470
Chromosome 10
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.56109539_56191483dup
DNA change (hg38) g.54349779_54431723dup
Published as -
ISCN -
DB-ID PCDH15_000088 See all 2 reported entries
Variant remarks -
Reference PubMed: Aller 2010, PubMed: Jaijo 2012
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 2010-09-15 11:59:07 +02:00 (CEST)
Date last edited 2024-05-26 09:50:44 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCDH15 NM_001384140.1 +/+ 3i_5i c.158-52781_475-3295dup r.? p.(Thr199Valfs*8)
PCDH15 NM_033056.3 +/+ 3i_5i c.158-52781_475-3295dup r.? p.(Thr199Valfs*8)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000167349 DNA arrayCGH;MLPA - - - 1 Anne-Françoise Roux


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