Genomic variant #0000094488

Individual ID 00063406
Chromosome 9
Allele Parent #1
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.98209594G>A
DNA change (hg38) g.95447312G>A
Published as -
ISCN -
DB-ID PTCH1_000030 See all 4 reported entries
Variant remarks -
Reference PubMed: Asplund 2005
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.29925 View details
Owner Michel van Geel
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PTCH1 NM_000264.3 +/. 23 c.3944C>T r.(?) p.(Pro1315Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000063537 DNA SEQ - - PTCH1 1 Michel van Geel