Genomic variant #0000036059

Individual ID 00021877
Chromosome 9
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.98278949_98278951del
Reference -
DB-ID PTCH1_000123
dbSNP ID -
Genetic origin -
Segregation -
Is Greek Founder -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00024
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PTCH1 NM_001083602.1 ./. - c.-198_-196del r.(=) p.(=)
PTCH1 NM_001083603.1 ./. - c.152_154del r.(?) p.(Gly51del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002208 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou