Variant #0000001219 (NC_000018.9:g.29172937G>C, TTR(NM_000371.3):c.148G>C)

Individual ID 00001219
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>C
Reference Utsugisawa K1, Tohgi H, Nagane Y, Yamagata M, Saito K, Mihara M.(1998)
DB-ID TTR_000015 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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>C r.(?) p.(Val50Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001219 ? ? TTR 1 Y Yang