Variant #0000355082 (NC_000011.9:g.1862753G>A, NM_003282.3:c.521G>A (TNNI2))

Individual ID 00154502
Chromosome 11
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1862753G>A
DNA change (hg38) g.1841523G>A
Published as -
ISCN -
DB-ID TNNI2_000002 See all 10 reported entries
Variant remarks 1) Sung 2003 found in 2 independent families with DA2B; in one family 521G>A arose de novo and segregated with DA2B in all affected children; 2) Beck 2013 identified a family with Distal arthrogryposis type 1 in affected father and child
Reference -
ClinVar ID ClinVar-12435
dbSNP ID rs104894311
Origin Germline/De novo (untested)
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2018-03-02 10:48:23 +01:00 (CET)
Date last edited 2021-03-17 14:24:32 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TNNI2 NM_003282.3 +?/. 8 c.521G>A r.(?) p.(Arg174Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000155360 DNA SEQ-NG-I Amniotic fluid, fetal cells - TNNI2 1 Andreas Laner


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