Variant #0000247203 (NC_000013.10:g.100915048A>G, PCCA(NM_000282.3):c.782A>G)

Chromosome 13
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.100915048A>G
DNA change (hg38) g.100262794A>G
Published as PCCA(NM_000282.3):c.782A>G (p.E261G)
ISCN -
DB-ID PCCA_000035
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_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCCA NM_000282.3 +?/. - c.782A>G r.(?) p.(Glu261Gly)
A2LD1 NM_001195087.1 +?/. - c.*269336T>C r.(=) p.(=)