Variant #0000452830 (NC_000001.10:g.156834586_156834594del, NC_000001.10(NM_002529.3):c.354_359+3del (NTRK1))

Individual ID 00217208
Chromosome 1
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.156834586_156834594del
DNA change (hg38) g.156864794_156864802del
Published as 354_359+3delGTCGCCTGT
ISCN -
DB-ID NTRK1_000049 See all 2 reported entries
Variant remarks -
Reference PubMed: Tuysuz 2008
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Peikuan Cong
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-07-28 18:02:13 +02:00 (CEST)
Date last edited 2024-05-30 16:04:13 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NTRK1 NM_002529.3 +/. - c.354_359+3del r.spl p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000218277 DNA SEQ - - NTRK1 1 Peikuan Cong


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