Genomic variant #0000021127

Individual ID 00017059
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.98209591T>C
Reference -
DB-ID PTCH1_000051 See all 6 reported entries
dbSNP ID rs147067171
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 0.00104
Allele Count 6
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.3947A>G r.(?) p.(Tyr1316Cys)
PTCH1 NM_001083602.1 -?/-? - c.3749A>G r.(?) p.(Tyr1250Cys)
PTCH1 NM_001083603.1 -?/-? - c.3944A>G r.(?) p.(Tyr1315Cys)
PTCH1 NM_001083604.1 -?/-? - c.3494A>G r.(?) p.(Tyr1165Cys)
PTCH1 NM_001083605.1 -?/-? - c.3494A>G r.(?) p.(Tyr1165Cys)
PTCH1 NM_001083606.1 -?/-? - c.3494A>G r.(?) p.(Tyr1165Cys)
PTCH1 NM_001083607.1 -?/-? - c.3494A>G r.(?) p.(Tyr1165Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000793 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou