Variant #0000296779 (NC_000013.10:g.100959450G>A, PCCA(NM_000282.3):c.1289G>A)

Chromosome 13
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.100959450G>A
DNA change (hg38) g.100307196G>A
Published as PCCA(NM_000282.4):c.1289G>A (p.R430Q)
ISCN -
DB-ID PCCA_000036 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 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCCA NM_000282.3 ?/. - c.1289G>A r.(?) p.(Arg430Gln)
A2LD1 NM_001195087.1 ?/. - c.*224934C>T r.(=) p.(=)