Genomic variant #0000027947

Individual ID 00020782
Chromosome 9
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.98209585G>A
Reference -
DB-ID PTCH1_000039 See all 7 reported entries
dbSNP ID rs536440590
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 0.00122
Allele Count 7
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.3953C>T r.(?) p.(Pro1318Leu)
PTCH1 NM_001083602.1 -?/-? - c.3755C>T r.(?) p.(Pro1252Leu)
PTCH1 NM_001083603.1 -?/-? - c.3950C>T r.(?) p.(Pro1317Leu)
PTCH1 NM_001083604.1 -?/-? - c.3500C>T r.(?) p.(Pro1167Leu)
PTCH1 NM_001083605.1 -?/-? - c.3500C>T r.(?) p.(Pro1167Leu)
PTCH1 NM_001083606.1 -?/-? - c.3500C>T r.(?) p.(Pro1167Leu)
PTCH1 NM_001083607.1 -?/-? - c.3500C>T r.(?) p.(Pro1167Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001466 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou