Genomic variant #0000039391

Individual ID 00021497
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.98209401G>A
Reference -
DB-ID PTCH1_000126
dbSNP ID rs149091602
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 0.00017
Allele Count 1
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.4137C>T r.(=) p.(=)
PTCH1 NM_001083602.1 -?/-? - c.3939C>T r.(=) p.(=)
PTCH1 NM_001083603.1 -?/-? - c.4134C>T r.(=) p.(=)
PTCH1 NM_001083604.1 -?/-? - c.3684C>T r.(=) p.(=)
PTCH1 NM_001083605.1 -?/-? - c.3684C>T r.(=) p.(=)
PTCH1 NM_001083606.1 -?/-? - c.3684C>T r.(=) p.(=)
PTCH1 NM_001083607.1 -?/-? - c.3684C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006962 DNA SEQ-NG-I 1 - 2 Despoina Kalfakakou