Variant #0000829508 (NC_000010.10:g.55955444T>G, NM_033056.3:c.1304A>C (PCDH15))

Individual ID 00396269
Chromosome 10
Allele Unknown
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.55955444T>G
DNA change (hg38) -
Published as c.1304A>C,p.D435A
ISCN -
DB-ID PCDH15_000073 See all 15 reported entries
Variant remarks -
Reference PubMed: Wafa-2021
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.23838 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2021-12-15 12:47:34 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCDH15 NM_001384140.1 +?/. - c.1304A>C r.(?) p.(Asp435Ala)
PCDH15 NM_033056.3 +?/. 11 c.1304A>C r.(?) p.(Glu435Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000397510 DNA SEQ-NG;SEQ - - PCDH15 1 LOVD


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