Variant #0000002449 (NC_000001.11:g.156880095G>C, NM_001012331.1:c.2125G>C (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.156880095G>C
Published as V709L
Reference A Shalimar et al.(2007)
DB-ID NTRK1_000001 See all 2 reported entries
dbSNP ID rs759190964
Frequency 2/6
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 10:28:22 +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     

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DNA change (cDNA)     

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RNA change     

Protein     

Clinical classification     
NTRK1 NM_001012331.1 +/. 16 c.2125G>C - r.(?) p.(Val709Leu) -



Screenings


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Genes screened     

Variants found     

Owner     
0000000584 DNA PCR NTRK1 2 Nur Aisyah Athirah