Variant #0000549649 (NC_000013.10:g.100953862A>G, PCCA(NM_000282.3):c.1209+5A>G)

Chromosome 13
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.100953862A>G
DNA change (hg38) g.100301608A>G
Published as PCCA(NM_000282.3):c.1209+5A>G
ISCN -
DB-ID A2LD1_000009
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCCA NM_000282.3 -?/. - c.1209+5A>G r.spl? p.?
A2LD1 NM_001195087.1 -?/. - c.*230522T>C r.(=) p.(=)