Variant #0000128943 (NC_000017.10:g.66521074A>G)

Individual ID 00079987
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.66521074A>G
DNA change (hg38) -
Published as -
ISCN -
DB-ID PRKAR1A_000003
Variant remarks -
Reference PubMed: Elli et al. 2016
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     
0000080066 DNA SEQ blood - - 2 Francesca Marta Elli