Annotation Detail
Information
- Associated Genes
- STIM1
- Associated Variants
-
STIM1 p.Ile115Phe (p.I115F)
(
ENST00000526596.2,
ENST00000698914.1,
ENST00000300737.8,
ENST00000616714.4,
ENST00000698916.1,
ENST00000698910.1,
ENST00000698913.1,
ENST00000698912.1,
ENST00000698915.1,
ENST00000525403.6,
ENST00000527651.5,
ENST00000698911.1 )
STIM1 p.Ile115Phe (p.I115F) ( 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
- not provided
- Source Database
- ClinVar
- Description
- NM_001382567.1(STIM1):c.343A>T (p.Ile115Phe) AND not provided
- ClinVar Allele ID
- 152909
- ClinVar RefSeq Alternation Syntax
- NM_001382575.1:c.121A>T
- ClinVar RefSeq Alternation Syntax
- NR_168436.1:n.950A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382577.1:c.121A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382568.1:c.343A>T
- ClinVar RefSeq Alternation Syntax
- NR_168438.1:n.950A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382578.1:c.121A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382571.1:c.-26A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382580.1:c.-147A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382566.1:c.121A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382569.1:c.208A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382581.1:c.-147A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382574.1:c.121A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382567.1:c.343A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382570.1:c.343A>T
- ClinVar RefSeq Alternation Syntax
- NM_001277961.3:c.343A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382576.1:c.121A>T
- ClinVar RefSeq Alternation Syntax
- NR_168437.1:n.950A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382572.1:c.343A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382579.1:c.121A>T
- ClinVar RefSeq Alternation Syntax
- NM_001382573.1:c.121A>T
- ClinVar RefSeq Alternation Syntax
- NM_001277962.2:c.343A>T
- ClinVar RefSeq Alternation Syntax
- NM_003156.4:c.343A>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000132725
- ClinVar Disease
- not provided
- Observed Origin Sample
- unknown
Drugs