Genomic variant #0000129213

Individual ID 00080165
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.66526546C>T
DNA change (hg38) g.68530405C>T
Published as -
ISCN -
DB-ID PRKAR1A_000010 See all 19 reported entries
Variant remarks -
Reference PubMed: Michot et al. 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Francesca Marta Elli
Options




Variant on transcripts

Stop! No variants on transcripts found!



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000080259 DNA SEQ blood - - 2 Francesca Marta Elli