Variant #0000684200 (NC_000016.9:g.(2114429_2115519)_(2124391_2125799)[3], NM_000548.3:c.(1599+1_1600-1)_(2545+1_2546-1)[3] (TSC2))
Individual ID |
00308259 |
Chromosome |
16 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(2114429_2115519)_(2124391_2125799)[3] |
DNA change (hg38) |
g.(2064428_2065518)_(2074390_2075798)[3] |
Published as |
triplication of exons 15-21 inclusive |
ISCN |
- |
DB-ID |
TSC2_001632 See all 2 reported entries |
Variant remarks |
triplication of exons 16-22 inclusive resulting in 4 alleles (heterozygous triplication); signal ratios for probes in exons 16-22 reported as 2x above control levels indicating 4 alleles; reported as triplication of exons 15-21 (based on 41 exons) |
Reference |
unpublished |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
De novo |
Segregation |
? |
Frequency |
1/4 individuals tested has the variant |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Genomic location of variant could not be determined |
Owner |
Rosemary Ekong |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Rosemary Ekong |
Date created |
2020-08-26 10:25:17 +02:00 (CEST) |
Date last edited |
N/A |
Variant on transcripts
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