Variant #0000088281 (NC_000002.11:g.179550841_179550865T[22_25], NM_001267550.1:c.32312-540_32312-516A[22_25] (TTN))

Individual ID 00057964
Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.179550841_179550865T[22_25]
DNA change (hg38) -
Published as 32354-540A(22_25)
ISCN -
DB-ID TTN_000526
Variant remarks sequence comparison
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2006-02-10 11:13:11 +01:00 (CET)
Date last edited 2019-08-17 10:10:15 +02:00 (CEST)




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTN NM_001267550.1 -/. 128i c.32312-540_32312-516A[22_25] r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000057927 DNA SEQ - - TTN 1 Johan den Dunnen


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