Variant #0000001226 (NC_000018.9:g.29172950G>C, TTR(NM_000371.3):c.161G>C)

Individual ID 00001226
Chromosome 18
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29172950G>C
Reference Patrosso MC1, Salvi F, De Grandis D, Vezzoni P, Jacobson DR, Ferlini A.(1998)
DB-ID TTR_000022
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
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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.161G>C r.(?) p.(Arg54Thr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001226 ? ? TTR 1 Y Yang