Variant #0000005113 (NC_000018.9:g.29172993A>G, TTR(NM_000371.3):c.200+4A>G)

Individual ID 00005119
Chromosome 18
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29172993A>G
Reference Xiang Q et al. (2016)dbSNP
DB-ID TTR_000112
Frequency -
Average frequency (gnomAD v.2.1.1) 2.0E-5 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 ./. 2i c.200+4A>G r.(=) p.(=) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005122 ? ? TTR 1 XY Liu