Variant #0000296781 (NC_000013.10:g.101167680G>A, PCCA(NM_000282.3):c.1900-1G>A)

Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.101167680G>A
DNA change (hg38) g.100515426G>A
Published as PCCA(NM_000282.4):c.1900-1G>A
ISCN -
DB-ID PCCA_000032
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCCA NM_000282.3 +/. - c.1900-1G>A r.spl? p.?
A2LD1 NM_001195087.1 +/. - c.*16704C>T r.(=) p.(=)