Genomic variant #0000000029

Individual ID 00000028, 00080166, 00248448
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
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 5 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.09588 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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.1117T>C - r.(1117u>c) p.(Tyr373His) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000028 DNA SEQ-NG - - ALG1, AMPD1, ATP7B, BTD, CBS, CLN3, CYP21A2, FGG, GALC, GLB1, JAK3, NPHS1, RAG2, RPGRIP1L, SERPINA1, SLC26A2 17 LOVD-team, but with Curator vacancy
0000080260 DNA SEQ blood - - 2 Francesca Marta Elli
0000249552 DNA SEQ;SEQ-NG - - ECEL1 1 Johan den Dunnen