Variant #0000131136 (NC_000001.10:g.12704778C>A, NC_000001.10(NM_001013630.1):c.168+45C>A (AADACL4))

Chromosome 1
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.12704778C>A
DB-ID -
dbSNP ID -
gnomAD frequency 2/236764
gnomAD homozygote count 0/118380
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Database submission license No license selected
Created by LOVD
Date created 2017-02-27 00:00:00 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
AADACL4 NM_001013630.1 ./. c.168+45C>A r.(=) p.(=)