Genomic variant #0000023315

Individual ID 00017342
Chromosome 9
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.98211319A>G
Reference -
DB-ID PTCH1_000007 See all 38 reported entries
dbSNP ID rs199982439
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00661
Allele Count 38
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PTCH1 NM_000264.3 -/- - c.3804+32T>C r.(=) p.(=)
PTCH1 NM_001083602.1 -/- - c.3606+32T>C r.(=) p.(=)
PTCH1 NM_001083603.1 -/- - c.3801+32T>C r.(=) p.(=)
PTCH1 NM_001083604.1 -/- - c.3351+32T>C r.(=) p.(=)
PTCH1 NM_001083605.1 -/- - c.3351+32T>C r.(=) p.(=)
PTCH1 NM_001083606.1 -/- - c.3351+32T>C r.(=) p.(=)
PTCH1 NM_001083607.1 -/- - c.3351+32T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001009 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou