Variant #0001529580 (NC_000001.10:g.898717C>T, NM_032129.2:c.-3195C>T (PLEKHN1))

Individual ID 00000055
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.898717C>T
Reference -
DB-ID KLHL17_000024
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 02:16:35 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen prediction     

GVS function     

Splice distance     
PLEKHN1 NM_001160184.1 ./. - c.-3195C>T -3195 r.(=) p.(=) - utr-5 -
NOC2L NM_015658.3 ./. - c.-4097G>A -4097 r.(=) p.(=) - utr-5 -
PLEKHN1 NM_032129.2 ./. - c.-3195C>T -3195 r.(=) p.(=) - utr-5 -
KLHL17 NM_198317.2 ./. - c.1188C>T 1188 r.(?) p.(=) - coding-synonymous-near-splice -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000067 DNA SEQ-NG - - 51186 LOVD