Variant #0000254198 (NC_000002.11:g.179666980A>G, NM_001267550.1:c.180T>C (TTN))

Chromosome 2
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.179666980A>G
DNA change (hg38) g.178802253A>G
Published as TTN(NM_001267550.1):c.180T>C (p.D60=)
ISCN -
DB-ID TTN_003553
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 8.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-08-06 14:59:34 +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 -?/. - c.180T>C r.(?) p.(Asp60=)
TTN NM_133379.3 -?/. - c.180T>C r.(?) p.(Asp60=)


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