Variant #0000833350 (NC_000023.10:g.23411263C>A, PTCHD1(NM_173495.2):c.1628C>A)

Individual ID 00399156
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.23411263C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PTCHD1_000059
Variant remarks -
Reference PubMed: Philips 2014
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
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 -?/. - c.1628C>A - r.(?) p.(Thr543Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000400400 DNA SEQ;SEQ-NG - X-WES - 3 Johan den Dunnen