Genomic variant #0000031522

Individual ID 00021603
Chromosome 9
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.98220619G>A
Reference -
DB-ID PTCH1_000010 See all 4 reported entries
dbSNP ID rs45602737
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 0.0007
Allele Count 4
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.2888-44C>T r.(=) p.(=)
PTCH1 NM_001083602.1 ?/? - c.2690-44C>T r.(=) p.(=)
PTCH1 NM_001083603.1 ?/? - c.2885-44C>T r.(=) p.(=)
PTCH1 NM_001083604.1 ?/? - c.2435-44C>T r.(=) p.(=)
PTCH1 NM_001083605.1 ?/? - c.2435-44C>T r.(=) p.(=)
PTCH1 NM_001083606.1 ?/? - c.2435-44C>T r.(=) p.(=)
PTCH1 NM_001083607.1 ?/? - c.2435-44C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001792 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou