Variant #0000549645 (NC_000013.10:g.100925458dup, PCCA(NM_000282.3):c.923dup)

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.100925458dup
DNA change (hg38) g.100273204dup
Published as PCCA(NM_000282.3):c.923dupT (p.L308Ffs*35), PCCA(NM_000282.4):c.923dupT (p.L308Ffs*35)
ISCN -
DB-ID A2LD1_000006 See all 2 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) 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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCCA NM_000282.3 +/. - c.923dup r.(?) p.(Leu308PhefsTer35)
A2LD1 NM_001195087.1 +/. - c.*258932dup r.(?) p.(=)