Variant #0000505442 (NC_000001.10:g.21889760G>A, ALPL(NM_000478.4):c.455G>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.21889760G>A
DNA change (hg38) g.21563267G>A
Published as ALPL(NM_000478.4):c.455G>A (p.(Arg152His)), ALPL(NM_000478.5):c.455G>A (p.R152H)
ISCN -
DB-ID ALPL_000002 See all 7 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.01157 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     
ALPL NM_000478.4 -?/. - c.455G>A r.(?) p.(Arg152His) -