Variant #0000549657 (NC_000013.10:g.101101510T>C, PCCA(NM_000282.3):c.1850T>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.101101510T>C
DNA change (hg38) g.100449256T>C
Published as PCCA(NM_000282.3):c.1850T>C (p.(Leu617Pro))
ISCN -
DB-ID A2LD1_000014
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) 0.00101 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCCA NM_000282.3 -?/. - c.1850T>C r.(?) p.(Leu617Pro)
A2LD1 NM_001195087.1 -?/. - c.*82874A>G r.(=) p.(=)