Genomic variant #0000021443

Individual ID 00017101
Chromosome 17
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.66526486G>A
Reference -
DB-ID PRKAR1A_000020
dbSNP ID rs772571340
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 5754
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PRKAR1A NM_001276289.1 ?/? - c.1042G>A r.(?) p.(Val348Ile)
PRKAR1A NM_001276290.1 ?/? - c.973+344G>A r.(=) p.(=)
PRKAR1A NM_002734.4 ?/? - c.1042G>A r.(?) p.(Val348Ile)
PRKAR1A NM_212471.2 ?/? - c.1042G>A r.(?) p.(Val348Ile)
PRKAR1A NM_212472.2 ?/? - c.1042G>A r.(?) p.(Val348Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000821 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou