Variant #0002691441 (NC_000003.11:g.111697919C>A, NM_001134437.1:c.*4509C>A (PHLDB2))

Chromosome 3
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.111697919C>A
DB-ID -
dbSNP ID rs760479425
gnomAD frequency 0/243894
gnomAD homozygote count 0/121946
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PHLDB2 NM_001134437.1 ./. c.*4509C>A r.(=) p.(=)
PHLDB2 NM_001134438.1 ./. c.*4509C>A r.(=) p.(=)
PHLDB2 NM_001134439.1 ./. c.*4509C>A r.(=) p.(=)
ABHD10 NM_001272069.1 ./. c.11C>A r.(?) p.(Ala4Glu)
ABHD10 NM_018394.3 ./. c.11C>A r.(?) p.(Ala4Glu)
PHLDB2 NM_145753.2 ./. c.*4509C>A r.(=) p.(=)