Annotation Detail
Information
- Associated Genes
- TIA1
- Associated Variants
-
TIA1 p.Asp104Val (p.D104V)
(
ENST00000282574.8,
ENST00000415783.6,
ENST00000416149.6,
ENST00000433529.7,
ENST00000445587.5 )
TIA1 p.Asp104Val (p.D104V) ( ENST00000282574.8, ENST00000415783.6, ENST00000416149.6, ENST00000433529.7, ENST00000445587.5 ) - Associated Disease
- Welander distal myopathy
- Source Database
- ClinVar
- Description
- NM_022173.4(TIA1):c.311A>T (p.Asp104Val) AND Welander distal myopathy
- ClinVar Allele ID
- 518512
- ClinVar RefSeq Alternation Syntax
- NM_001351508.2:c.311A>T
- ClinVar RefSeq Alternation Syntax
- NR_147226.2:n.476A>T
- ClinVar RefSeq Alternation Syntax
- NR_147230.2:n.628A>T
- ClinVar RefSeq Alternation Syntax
- NR_147231.2:n.509A>T
- ClinVar RefSeq Alternation Syntax
- NR_147228.2:n.509A>T
- ClinVar RefSeq Alternation Syntax
- NR_147232.2:n.379A>T
- ClinVar RefSeq Alternation Syntax
- NR_147229.2:n.476A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351523.2:c.83A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351509.2:c.284A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351518.2:c.311A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351510.2:c.278A>T
- ClinVar RefSeq Alternation Syntax
- NR_147222.2:n.471A>T
- ClinVar RefSeq Alternation Syntax
- NR_147223.2:n.595A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351524.2:c.-110A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351519.2:c.311A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351515.2:c.8A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351520.2:c.436A>T
- ClinVar RefSeq Alternation Syntax
- NR_147224.2:n.476A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351525.2:c.-176A>T
- ClinVar RefSeq Alternation Syntax
- NR_147221.2:n.476A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351513.1:c.167A>T
- ClinVar RefSeq Alternation Syntax
- NR_147218.1:n.416A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351522.2:c.311A>T
- ClinVar RefSeq Alternation Syntax
- NR_147219.2:n.509A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351516.2:c.311A>T
- ClinVar RefSeq Alternation Syntax
- NM_022173.4:c.311A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351511.1:c.200A>T
- ClinVar RefSeq Alternation Syntax
- NR_147216.1:n.535A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351512.1:c.173A>T
- ClinVar RefSeq Alternation Syntax
- NM_022037.4:c.278A>T
- ClinVar RefSeq Alternation Syntax
- NR_147227.2:n.504A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351514.2:c.83A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351517.2:c.-214A>T
- ClinVar RefSeq Alternation Syntax
- NR_147220.2:n.471A>T
- ClinVar RefSeq Alternation Syntax
- NR_147225.2:n.628A>T
- ClinVar RefSeq Alternation Syntax
- NM_001351521.2:c.278A>T
- ClinVar RefSeq Alternation Syntax
- NR_147217.1:n.416A>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2019-06-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000633709
- ClinVar Disease
- Welander distal myopathy
- Observed Origin Sample
- germline
Drugs