Genomic variant #0000030088

Individual ID 00014967
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.66511747T>G
Reference -
DB-ID PRKAR1A_000002 See all 25 reported entries
dbSNP ID -
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 0.00434
Allele Count 25
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.177+30T>G r.(=) p.(=)
PRKAR1A NM_001276290.1 ?/? - c.177+30T>G r.(=) p.(=)
PRKAR1A NM_002734.4 ?/? - c.177+30T>G r.(=) p.(=)
PRKAR1A NM_212471.2 ?/? - c.177+30T>G r.(=) p.(=)
PRKAR1A NM_212472.2 ?/? - c.177+30T>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001658 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou