Variant #0001610672 (NC_000002.11:g.219130514G>A, NM_001077399.2:c.-4745G>A (PNKD))

Individual ID 00000056
Chromosome 2
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.219130514G>A
Reference -
DB-ID AAMP_000002 See all 3 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.02691 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 02:46:11 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     
GPBAR1 NM_001077191.1 ./. - c.*2074G>A 3067 r.(=) p.(=) - utr-3 -
GPBAR1 NM_001077194.1 ./. - c.*2074G>A 3067 r.(=) p.(=) - utr-3 -
PNKD NM_001077399.2 ./. - c.-4745G>A -4745 r.(=) p.(=) - utr-5 -
AAMP NM_001087.3 ./. - c.879+40C>T 879 r.(=) p.(=) - intron 40
PNKD NM_015488.4 ./. - c.-4745G>A -4745 r.(=) p.(=) - utr-5 -
GPBAR1 NM_170699.2 ./. - c.*2074G>A 3067 r.(=) p.(=) - utr-3 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000068 DNA SEQ-NG - - 51015 LOVD