Genomic variant #0000000021

Individual ID 00000020, 00080151
Chromosome 1
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21887209C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID ALPL_000001
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
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     
ALPL NM_000478.4 ./. - c.152C>T - r.(?) p.(Ala51Val) - - -
PRKAR1A NM_002734.4 +?/+? 11 c.1118A>G - r.(1118a>g) p.(Tyr373Cys) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000020 DNA SEQ-NG - - ALPL, ATP7B, ETFB, GLB1, IGHMBP2, MKS1, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMPD1 14 LOVD-team, but with Curator vacancy
0000080245 DNA SEQ blood - - 2 Francesca Marta Elli