Genomic variant #0000000022

Individual ID 00000021, 00080152
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21889760G>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID ALPL_000002 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) 0.01053 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
ALPL NM_000478.4 ./. - c.455G>A r.(?) - p.(Arg152His) - - -
BSCL2 NM_001122955.3 +/. - c.465_468del r.(?) pathogenic (recessive) p.(Thr156Argfs*8) - - -
PRKAR1A NM_002734.4 +?/+? 8 c.715A>G r.(715a>g) - p.(Thr239Ala) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000021 DNA SEQ-NG - - ALPL, BTD, CBS, DKC1, ETFB, GLB1, SBDS, SERPINA1 7 LOVD-team, but with Curator vacancy
0000080246 DNA SEQ blood - - 2 Francesca Marta Elli