Variant #0000079597 (NC_000023.10:g.23411079del, PTCHD1(NM_173495.2):c.1444del)

Individual ID 00050672
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.23411079del
DNA change (hg38) g.23392962del
Published as 2341107&_23411077delACinsA
ISCN -
DB-ID PTCHD1_000013 See all 2 reported entries
Variant remarks -
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
PTCHD1 NM_173495.2 +/. 3 c.1444del - r.(?) p.(Leu482Tyrfs*14)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050617 DNA SEQ;SEQ-NG-I - - PTCHD1 1 Johan den Dunnen