Variant #0000786716 (NC_000016.9:g.2125788C>T, NC_000016.9(NM_000548.3):c.2546-12C>T (TSC2))

Individual ID 00000040
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.2125788C>T
Reference -
DB-ID TSC2_000018 See all 14 reported entries
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) 0.09482 View details
Owner LOVD
Database submission license No license selected
Created by LOVD
Date created 2016-08-24 19:10:14 +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     
TSC2 NM_000548.3 ./. - c.2546-12C>T 2546 r.(=) p.(=) - intron 12
TSC2 NM_001077183.1 ./. - c.2546-12C>T 2546 r.(=) p.(=) - intron 12
TSC2 NM_001114382.1 ./. - c.2546-12C>T 2546 r.(=) p.(=) - intron 12



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Genes screened     

Variants found     

Owner     
0000000052 DNA SEQ-NG - - 51023 LOVD