Variant #0000236384 (NC_000023.10:g.23411429_23411441del, PTCHD1(NM_173495.2):c.1794_1806del)

Individual ID 00144427
Chromosome X
Allele Both (homozygous)
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.23411429_23411441del
DNA change (hg38) g.23393312_23393324del
Published as 1794_1806delCAATGTATCCACT
ISCN -
DB-ID PTCHD1_000020
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner IMGAG
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by IMGAG
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
PTCHD1 NM_173495.2 +/. - c.1794_1806del - r.(?) p.(Asn599Alafs*11)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000145285 DNA SEQ - - - 1 IMGAG