Variant #0001733978 (NC_000001.10:g.1262591C>T, NM_001256456.1:c.-3058G>A (CPSF3L))

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.1262591C>T
Reference -
DB-ID GLTPD1_000002 See all 31 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.85469 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     
CPSF3L NM_001256456.1 ./. - c.-3058G>A -3058 r.(=) p.(=) - utr-5 -
CPSF3L NM_001256460.1 ./. - c.-2797G>A -2797 r.(=) p.(=) - utr-5 -
CPSF3L NM_001256462.1 ./. - c.-2603G>A -2603 r.(=) p.(=) - utr-5 -
CPSF3L NM_001256463.1 ./. - c.-2603G>A -2603 r.(=) p.(=) - utr-5 -
CPSF3L NM_017871.5 ./. - c.-2603G>A -2603 r.(=) p.(=) - utr-5 -
TAS1R3 NM_152228.1 ./. - c.-4135C>T -4135 r.(=) p.(=) - utr-5 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000071 DNA SEQ-NG - - 51302 LOVD