Variant #0000549661 (NC_000013.10:g.101182405C>T, PCCA(NM_000282.3):c.2172C>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.101182405C>T
DNA change (hg38) g.100530151C>T
Published as PCCA(NM_000282.3):c.2172C>T (p.L724=)
ISCN -
DB-ID A2LD1_000017 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) 0.00106 View details
Owner VKGL-NL_AMC
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_AMC
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCCA NM_000282.3 -?/. - c.2172C>T r.(?) p.(Leu724=)
A2LD1 NM_001195087.1 -?/. - c.*1979G>A r.(=) p.(=)