Variant #0003420239 (NC_000004.11:g.146018676A>T, NM_001040876.1:c.-920A>T (ABCE1))

Chromosome 4
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.146018676A>T
DB-ID -
dbSNP ID -
gnomAD frequency 2/123138
gnomAD homozygote count 0/61567
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     
ABCE1 NM_001040876.1 ./. c.-920A>T r.(=) p.(=)
ANAPC10 NM_001256706.1 ./. c.-13+596T>A r.(=) p.(=)
ANAPC10 NM_001256707.1 ./. c.-13+164T>A r.(=) p.(=)
ANAPC10 NM_001256708.1 ./. c.-13+712T>A r.(=) p.(=)
ANAPC10 NM_001256709.1 ./. c.-9T>A r.(=) p.(=)
ANAPC10 NM_001256710.1 ./. c.-13+596T>A r.(=) p.(=)
ANAPC10 NM_001256711.1 ./. c.-13+164T>A r.(=) p.(=)
ANAPC10 NM_001256712.1 ./. c.-13+607T>A r.(=) p.(=)
ABCE1 NM_002940.2 ./. c.-923A>T r.(=) p.(=)
ANAPC10 NM_014885.4 ./. c.-13+607T>A r.(=) p.(=)