Genomic variant #0000040067

Individual ID 00022005
Chromosome 17
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.66511531G>C
Reference -
DB-ID PRKAR1A_000016 See all 3 reported entries
dbSNP ID rs190803359
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 0.00052
Allele Count 3
Allele Number 5754
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRKAR1A NM_001276289.1 -?/-? - c.-6-4G>C r.spl? p.?
PRKAR1A NM_001276290.1 -?/-? - c.-10G>C r.spl? p.?
PRKAR1A NM_002734.4 -?/-? - c.-6-4G>C r.spl? p.?
PRKAR1A NM_212471.2 -?/-? - c.-6-4G>C r.spl? p.?
PRKAR1A NM_212472.2 -?/-? - c.-6-4G>C r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007019 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou