Variant #0000549660 (NC_000013.10:g.101167798G>C, PCCA(NM_000282.3):c.2017G>C)

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.101167798G>C
DNA change (hg38) g.100515544G>C
Published as PCCA(NM_000282.4):c.2017G>C (p.V673L)
ISCN -
DB-ID A2LD1_000016
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) 0.00251 View details
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCCA NM_000282.3 -?/. - c.2017G>C r.(?) p.(Val673Leu)
A2LD1 NM_001195087.1 -?/. - c.*16586C>G r.(=) p.(=)