Variant #0000000021 (NC_000001.10:g.21887209C>T, ALPL(NM_000478.4):c.152C>T)

Individual ID 00000020, 00080151
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.21887209C>T
DNA change (hg38) g.21560716C>T
Published as -
ISCN -
DB-ID ALPL_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 View details
Owner Gerard C.P. Schaafsma
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Enzyme activity     
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 Global Variome, with Curator vacancy
0000080245 DNA SEQ blood - - 2 Francesca Marta Elli