Genomic variant #0000017974

Individual ID 00016817
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.98229452C>T
Reference -
DB-ID PTCH1_000041
dbSNP ID rs78708791
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.2506G>A r.(?) p.(Glu836Lys)
PTCH1 NM_001083602.1 ?/? - c.2308G>A r.(?) p.(Glu770Lys)
PTCH1 NM_001083603.1 ?/? - c.2503G>A r.(?) p.(Glu835Lys)
PTCH1 NM_001083604.1 ?/? - c.2053G>A r.(?) p.(Glu685Lys)
PTCH1 NM_001083605.1 ?/? - c.2053G>A r.(?) p.(Glu685Lys)
PTCH1 NM_001083606.1 ?/? - c.2053G>A r.(?) p.(Glu685Lys)
PTCH1 NM_001083607.1 ?/? - c.2053G>A r.(?) p.(Glu685Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000533 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou