Variant #0000088991 (NC_000002.11:g.179667000C>T, NM_001267550.1:c.160G>A (TTN))

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.179667000C>T
DNA change (hg38) g.178802273C>T
Published as -
ISCN -
DB-ID TTN_000008 See all 2 reported entries
Variant remarks expression cloning, Y2H 0.40 reduced TCAP binding
Reference PubMed: Itoh-Satoh 2002
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-11-18 12:00:22 +01:00 (CET)
Date last edited 2020-07-14 21:50:58 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TTN NM_001267550.1 +?/. 3 c.160G>A r.(?) p.Val54Met


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