Variant #0000657225 (NC_000013.10:g.100953816C>T, PCCA(NM_000282.3):c.1168C>T)

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.100953816C>T
DNA change (hg38) g.100301562C>T
Published as PCCA(NM_000282.4):c.1168C>T (p.R390C)
ISCN -
DB-ID A2LD1_000026
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) 5.0E-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.1168C>T r.(?) p.(Arg390Cys)
A2LD1 NM_001195087.1 ?/. - c.*230568G>A r.(=) p.(=)