Variant #0000659249 (NC_000023.10:g.23412238T>C, PTCHD1(NM_173495.2):c.2603T>C)

Chromosome X
Allele Unknown
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.23412238T>C
DNA change (hg38) g.23394121T>C
Published as PTCHD1(NM_173495.2):c.2603T>C (p.I868T)
ISCN -
DB-ID PTCHD1_000045
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00016 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
PTCHD1 NM_173495.2 -?/. - c.2603T>C - r.(?) p.(Ile868Thr)