Variant #0000549640 (NC_000013.10:g.100764189_100764192del, PCCA(NM_000282.3):c.231+47_231+50del)

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.100764189_100764192del
DNA change (hg38) g.100111935_100111938del
Published as PCCA(NM_000282.4):c.231+47_231+50delTATT
ISCN -
DB-ID A2LD1_000003
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) Variant not found in online data sets
Owner VKGL-NL_Utrecht
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Utrecht
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PCCA NM_000282.3 -?/. - c.231+47_231+50del r.(=) p.(=)
A2LD1 NM_001195087.1 -?/. - c.*420197_*420200del r.(=) p.(=)