Genomic variant #0000029251

Individual ID 00020931
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.98209214G>A
Reference -
DB-ID PTCH1_000018 See all 20 reported entries
dbSNP ID rs143464326
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 0.00348
Allele Count 20
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.4324C>T r.(?) p.(Arg1442Trp)
PTCH1 NM_001083602.1 -?/-? - c.4126C>T r.(?) p.(Arg1376Trp)
PTCH1 NM_001083603.1 -?/-? - c.4321C>T r.(?) p.(Arg1441Trp)
PTCH1 NM_001083604.1 -?/-? - c.3871C>T r.(?) p.(Arg1291Trp)
PTCH1 NM_001083605.1 -?/-? - c.3871C>T r.(?) p.(Arg1291Trp)
PTCH1 NM_001083606.1 -?/-? - c.3871C>T r.(?) p.(Arg1291Trp)
PTCH1 NM_001083607.1 -?/-? - c.3871C>T r.(?) p.(Arg1291Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001582 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou