Variant #0000002451 (NC_000001.11:g.156880122G>A, NM_001007792.1:c.2062G>A (NTRK1))

Individual ID 00000536
Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.156880122G>A
Published as G718S
Reference A Shalimar et al.(2007)
DB-ID NTRK1_000002 See all 2 reported entries
dbSNP ID -
Frequency 3/6
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-03-23 10:39:12 +08:00 (CST)
Date last edited 2021-08-01 13:29:37 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
NTRK1 NM_001007792.1 +/. 16 c.2062G>A - r.(?) p.(Gly688Ser) -



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000000584 DNA PCR NTRK1 2 Nur Aisyah Athirah