Variant #0002547975 (NC_000003.11:g.52004147G>A, NM_001174100.1:c.-3018C>T (PCBP4))

Chromosome 3
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.52004147G>A
DB-ID -
dbSNP ID rs749615200
gnomAD frequency 1/208062
gnomAD homozygote count 0/104030
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     
ABHD14B NM_001146314.1 ./. c.265C>T r.(?) p.(Pro89Ser)
PCBP4 NM_001174100.1 ./. c.-3018C>T r.(=) p.(=)
ABHD14B NM_001254753.1 ./. c.151C>T r.(?) p.(Pro51Ser)
ABHD14A NM_015407.4 ./. c.-5005G>A r.(=) p.(=)
PCBP4 NM_020418.3 ./. c.-2953C>T r.(=) p.(=)
ABHD14B NM_032750.2 ./. c.265C>T r.(?) p.(Pro89Ser)
PCBP4 NM_033008.2 ./. c.-2870C>T r.(=) p.(=)