Variant #0000014441 (NC_000023.10:g.23353683C>G, PTCHD1(NM_173495.2):c.351+340C>G)

Individual ID 00000209
Chromosome X
Allele Maternal (inferred)
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.23353683C>G
DNA change (hg38) g.23335566C>G
Published as -
ISCN -
DB-ID PTCHD1_000010 See all 2 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Yu Sun
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Ivo F.A.C. Fokkema
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     
PTCHD1 NM_173495.2 -?/. 1i c.351+340C>G - r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000210 DNA SEQ-NG-I - - - 6404 Yu Sun