Variant #0000001656 (NC_000001.10:g.156843498_156843504delGCCGGCA, NTRK1(NM_001007792.1):c.834_840delGCCGGCA)

Individual ID 00001656
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.156843498_156843504delGCCGGCA
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_000002
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.834_840delGCCGGCA r.(?) p.(Gln278Hisfs*154) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001656 ? ? NTRK1 1 Y Yang