Variant #0000001679 (NC_000001.10:g.156843650A>G, NTRK1(NM_001007792.1):c.986A>G)

Individual ID 00001679
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.156843650A>G
Reference Houlden H1, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK.(2001)
DB-ID NTRK1_000018
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     
NTRK1 NM_001007792.1 ./. 9 c.986A>G r.(?) p.(Tyr329Cys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001679 ? ? NTRK1 1 Y Yang