Variant #0001733898 (NC_000001.10:g.892460G>C, NC_000001.10(NM_015658.3):c.354+19C>G (NOC2L))

Individual ID 00000059
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.892460G>C
Reference -
DB-ID KLHL17_000014 See all 4 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.04674 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 04:14:57 +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     
NOC2L NM_015658.3 ./. - c.354+19C>G 354 r.(=) p.(=) - intron 19
KLHL17 NM_198317.2 ./. - c.-3614G>C -3614 r.(=) p.(=) - utr-5 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000071 DNA SEQ-NG - - 51302 LOVD