Variant #0000005490 (NC_000018.9:g.29172937G>A, TTR(NM_000371.3):c.148G>A)

Individual ID 00005496
Chromosome 18
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29172937G>A
Reference Maetani Y et al. (2016)
DB-ID TTR_000013 See all 21 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.0001 View details
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.148G>A r.(?) p.(Val50Met) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005507 ? ? TTR 1 XY Liu