Variant #0000770445 (NC_000001.10:g.33790496G>A, NM_198040.2:c.2547C>T (PHC2))

Individual ID 00000040
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.33790496G>A
Reference -
DB-ID PHC2_000014 See all 6 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.21263 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-24 19:10:14 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Position     

Splice distance     

GVS function     

Protein     

PolyPhen prediction     
A3GALT2 NM_001080438.1 ./. - c.-3797C>T r.(=) -3797 - utr-5 p.(=) -
PHC2 NM_004427.3 ./. - c.942C>T r.(?) 942 - coding-synonymous p.(=) -
PHC2 NM_198040.2 ./. - c.2547C>T r.(?) 2547 - coding-synonymous p.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000052 DNA SEQ-NG - - 51023 LOVD