Variant #0000086048 (NC_000012.11:g.124184249A>G, NC_000012.11(NM_024809.4):c.1506-2A>G (TCTN2))

Individual ID 00056055
Chromosome 12
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.124184249A>G
DNA change (hg38) g.123699702A>G
Published as -
ISCN -
DB-ID TCTN2_000004 See all 13 reported entries
Variant remarks -
Reference PubMed: Watson 2016, Journal: Watson 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Christopher Watson
Database submission license No license selected
Created by Christopher Watson
Date created 2015-12-08 17:02:03 +01:00 (CET)
Date last edited 2020-07-03 11:25:51 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TCTN2 NM_024809.4 +/. 13i c.1506-2A>G r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000056010 DNA SEQ-NG - - - 1 Christopher Watson


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