Genomic variant #0000002474

Individual ID 00000011
Chromosome 9
Allele Unknown
Affects function (reported) Not classified
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.95476076G>A
Reference dbSNP
DB-ID PTCH1_000003 See all 8 reported entries
Frequency 0.172 Patients_Q37
Allele Count 10
Allele Number 58
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     
PTCH1 NM_000264.3 ./. - c.1686C>T - r.(=) p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000012 DNA TaqMan - 249 Admin