Genomic variant #0000043600

Individual ID 00022094
Chromosome 17
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.66511558C>T
Reference -
DB-ID PRKAR1A_000034
dbSNP ID -
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5902
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRKAR1A NM_001276289.1 ./. - c.18C>T r.(=) p.(=)
PRKAR1A NM_001276290.1 ./. - c.18C>T r.(=) p.(=)
PRKAR1A NM_002734.4 ./. - c.18C>T r.(=) p.(=)
PRKAR1A NM_212471.2 ./. - c.18C>T r.(=) p.(=)
PRKAR1A NM_212472.2 ./. - c.18C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007592 DNA SEQ-NG-I 1 - 48 Stevi Xera