Variant #0001428441 (NC_000001.10:g.880390C>A, NC_000001.10(NM_015658.3):c.2143+47G>T (NOC2L))

Individual ID 00000053
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.880390C>A
Reference -
DB-ID NOC2L_000028 See all 4 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.04403 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-25 01:17:19 +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.2143+47G>T 2143 r.(=) p.(=) - intron 47
SAMD11 NM_152486.2 ./. - c.*857C>A 2903 r.(=) p.(=) - utr-3 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000065 DNA SEQ-NG - - 50945 LOVD