Variant #0000724321 (NC_000013.10:g.100992428A>T, PCCA(NM_000282.3):c.1558A>T)

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.100992428A>T
DNA change (hg38) -
Published as PCCA(NM_000282.3):c.1558A>T (p.S520C)
ISCN -
DB-ID A2LD1_000033
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) 0.00036 View details
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.1558A>T r.(?) p.(Ser520Cys)
A2LD1 NM_001195087.1 -?/. - c.*191956T>A r.(=) p.(=)