Variant #0000129231 (NC_000017.10:g.66526448G>T)

Individual ID 00080180
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.66526448G>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID PRKAR1A_000020
Variant remarks -
Reference PubMed: Linglart et al. 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Francesca Marta Elli
Database submission license No license selected
Created by Francesca Marta Elli
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Variant on transcripts

Stop! No variants on transcripts found!



Screenings


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Owner     
0000080273 DNA SEQ blood - - 2 Francesca Marta Elli