Variant #0000311176 (NC_000001.10:g.33790433C>T, NM_198040.2:c.*33G>A (PHC2))

Chromosome 1
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33790433C>T
DB-ID -
dbSNP ID -
gnomAD frequency 1/233984
gnomAD homozygote count 0/116991
Average frequency (gnomAD v.2.1.1) 0 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     
A3GALT2 NM_001080438.1 ./. c.-3734G>A r.(=) p.(=)
PHC2 NM_004427.3 ./. c.*33G>A r.(=) p.(=)
PHC2 NM_198040.2 ./. c.*33G>A r.(=) p.(=)