Annotation Detail
Information
- Associated Genes
- STIM1
- Associated Variants
-
STIM1 p.Asn80Ser (p.N80S)
(
ENST00000698914.1,
ENST00000526596.2,
ENST00000300737.8,
ENST00000698916.1,
ENST00000698910.1,
ENST00000698913.1,
ENST00000616714.4,
ENST00000698915.1,
ENST00000527651.5,
ENST00000525403.6,
ENST00000698911.1,
ENST00000698912.1 )
STIM1 p.Asn80Ser (p.N80S) ( ENST00000300737.8, ENST00000525403.6, ENST00000526596.2, ENST00000527651.5, ENST00000616714.4, ENST00000698910.1, ENST00000698911.1, ENST00000698912.1, ENST00000698913.1, ENST00000698914.1, ENST00000698915.1, ENST00000698916.1 ) - Associated Disease
- Stormorken syndrome Combined immunodeficiency due to STIM1 deficiency Myopathy with tubular aggregates
- Source Database
- ClinVar
- Description
- NM_001382567.1(STIM1):c.239A>G (p.Asn80Ser) AND multiple conditions
- ClinVar Allele ID
- 838403
- ClinVar RefSeq Alternation Syntax
- NM_001382580.1:c.-219-56222A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382566.1:c.17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382567.1:c.239A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382570.1:c.239A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382569.1:c.136-56222A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382572.1:c.239A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382579.1:c.17A>G
- ClinVar RefSeq Alternation Syntax
- NM_003156.4:c.239A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382571.1:c.-98-56222A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382578.1:c.17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382573.1:c.17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382577.1:c.17A>G
- ClinVar RefSeq Alternation Syntax
- NR_168437.1:n.846A>G
- ClinVar RefSeq Alternation Syntax
- NM_001277962.2:c.239A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382576.1:c.17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382568.1:c.239A>G
- ClinVar RefSeq Alternation Syntax
- NR_168436.1:n.846A>G
- ClinVar RefSeq Alternation Syntax
- NM_001277961.3:c.239A>G
- ClinVar RefSeq Alternation Syntax
- NR_168438.1:n.846A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382581.1:c.-219-56222A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382574.1:c.17A>G
- ClinVar RefSeq Alternation Syntax
- NM_001382575.1:c.17A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-03-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001054010
- ClinVar Disease
- Stormorken syndrome
- ClinVar Disease
- Myopathy with tubular aggregates
- ClinVar Disease
- Combined immunodeficiency due to STIM1 deficiency
- Observed Origin Sample
- germline
Drugs