Variant #0000001668 (NC_000001.10:g.156848946G>T, NTRK1(NM_001007792.1):c.1730G>T)

Individual ID 00001668
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.156848946G>T
Reference Mardy S1, Miura Y, Endo F, Matsuda I, Sztriha L, Frossard P, Moosa A, Ismail EA, Macaya A, Andria G, Toscano E, Gibson W, Graham GE, Indo Y.(1999)
DB-ID NTRK1_000015
Frequency -
Average frequency (gnomAD v.2.1.1) 0.04173 View details
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     
NTRK1 NM_001007792.1 ./. 15 c.1730G>T r.(?) p.(Gly577Val) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001668 ? ? NTRK1 1 Y Yang