Variant #0000005465 (NC_000018.9:g.29172946T>C, TTR(NM_000371.3):c.157T>C)

Individual ID 00005470
Chromosome 18
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29172946T>C
Reference Leibou L eT al. (2012)
DB-ID TTR_000019 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
TTR NM_000371.3 ./. 2 c.157T>C r.(?) p.(Phe53Leu) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005481 ? ? TTR 1 XY Liu