Variant #0004387936 (NC_000006.11:g.43395795_43395796insA, NM_033450.2:c.-4053_-4052insA (ABCC10))

Chromosome 6
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.43395795_43395796insA
DB-ID -
dbSNP ID rs779529368
gnomAD frequency 4/196348
gnomAD homozygote count 0/98169
Average frequency (gnomAD v.2.1.1) Retrieve
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     
ABCC10 NM_001198934.1 ./. c.80dupA r.(?) p.(His27GlnfsTer186)
ABCC10 NM_033450.2 ./. c.-4053_-4052insA r.(=) p.(=)