Variant #0001408887 (NC_000002.11:g.27351332G>A, NM_013388.4:c.*2950C>T (PREB))

Chromosome 2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.27351332G>A
DB-ID -
dbSNP ID rs748621199
gnomAD frequency 10/246206
gnomAD homozygote count 0/123092
Average frequency (gnomAD v.2.1.1) 4.0E-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     
PREB NM_013388.4 ./. c.*2950C>T r.(=) p.(=)
ABHD1 NM_032604.3 ./. c.138delGinsA r.(?) p.(ProGln46=)