Genomic variant #0000043819

Individual ID 00022104
Chromosome 9
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.98268765G>A
Reference -
DB-ID PTCH1_000134 See all 2 reported entries
dbSNP ID rs1805153
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00034
Allele Count 2
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PTCH1 NM_000264.3 ./. - c.318C>T r.(=) p.(=)
PTCH1 NM_001083602.1 ./. - c.120C>T r.(=) p.(=)
PTCH1 NM_001083603.1 ./. - c.315C>T r.(=) p.(=)
PTCH1 NM_001083604.1 ./. - c.-136C>T r.(=) p.(=)
PTCH1 NM_001083605.1 ./. - c.-136C>T r.(=) p.(=)
PTCH1 NM_001083606.1 ./. - c.-136C>T r.(=) p.(=)
PTCH1 NM_001083607.1 ./. - c.-136C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007602 DNA SEQ-NG-I 1 - 41 Stevi Xera