Variant #0000549658 (NC_000013.10:g.101101556A>G, PCCA(NM_000282.3):c.1896A>G)

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.101101556A>G
DNA change (hg38) g.100449302A>G
Published as PCCA(NM_000282.3):c.1896A>G (p.T632=), PCCA(NM_000282.4):c.1896A>G (p.T632=)
ISCN -
DB-ID PCCA_000031 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) 0.0006 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.1896A>G r.(?) p.(Thr632=)
A2LD1 NM_001195087.1 ?/. - c.*82828T>C r.(=) p.(=)