Variant #0000000028 (NC_000001.10:g.115231254G>A, PRKAR1A(NM_002734.4):c.1102C>T)

Individual ID 00000027, 00080165
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.115231254G>A
DNA change (hg38) g.114688633G>A
Published as -
ISCN -
DB-ID AMPD1_000001 See all 6 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.08775 View details
Owner Gerard C.P. Schaafsma
Database submission license No license selected
Created by Gerard C.P. Schaafsma
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
AMPD1 NM_000036.2 ?/. - c.242C>T r.(?) p.(Pro81Leu) - - -
PRKAR1A NM_002734.4 +?/+? 11 c.1102C>T r.(1102c>u) p.(Arg368*) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000027 DNA SEQ-NG - - AMPD1, ARSB, ATP7B, CBS, CFTR, DPYD, ETFB, HEXB, MYO5A, NHLRC1, NPC1, NPHS1, SLC26A2 13 Global Variome, with Curator vacancy
0000080259 DNA SEQ blood - - 2 Francesca Marta Elli