Variant #0001985726 (NC_000001.10:g.898852C>T, NM_032129.2:c.-3060C>T (PLEKHN1))

Individual ID 00000064
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.898852C>T
Reference -
DB-ID KLHL17_000025
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.00909 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 06:26:12 +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.-3060C>T -3060 r.(=) p.(=) - utr-5 -
NOC2L NM_015658.3 ./. - c.-4232G>A -4232 r.(=) p.(=) - utr-5 -
PLEKHN1 NM_032129.2 ./. - c.-3060C>T -3060 r.(=) p.(=) - utr-5 -
KLHL17 NM_198317.2 ./. - c.1323C>T 1323 r.(?) p.(=) - coding-synonymous -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000076 DNA SEQ-NG - - 51294 LOVD