Genomic variant #0000019434

Individual ID 00020014
Chromosome 9
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.98279099del
Reference Chassaing et al (2016)
DB-ID PTCH1_000047
dbSNP ID rs752765582
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_001083602.1 +?/+? - c.-346del r.(=) p.(=)
PTCH1 NM_001083603.1 +?/+? - c.4del r.(?) p.(Glu2Asnfs*9)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000658 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou