Variant #0000004423 (NC_000009.11:g.135797337C>T, TSC1(NM_000368.4):c.532G>A)

Individual ID 00004423
Chromosome 9
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.135797337C>T
Reference -
DB-ID TSC1_000013
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00019 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
TSC1 NM_000368.4 ./. 7 c.532G>A r.(?) p.(Val178Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000004423 ? ? TSC1 1 Y Yang