Annotation Detail
Information
- Associated Genes
- SPTB PLEKHG3
- Associated Variants
-
SPTB p.Leu2236Met (p.L2236M), PLEKHG3 c.*6348G>T
(
ENST00000247226.13,
ENST00000634379.2,
ENST00000644917.1,
ENST00000389722.7 )
SPTB p.Leu2236Met (p.L2236M), PLEKHG3 c.*6348G>T ( ENST00000389722.7, ENST00000644917.1, ENST00000247226.13, ENST00000634379.2 ) - Associated Disease
- Familial hemolytic anemia
- Source Database
- ClinVar
- Description
- NM_001355436.2(SPTB):c.6706C>A (p.Leu2236Met) AND Familial hemolytic anemia
- ClinVar Allele ID
- 535253
- ClinVar RefSeq Alternation Syntax
- NM_001308147.2:c.*6348G>T
- ClinVar RefSeq Alternation Syntax
- NM_001024858.4:c.6706C>A
- ClinVar RefSeq Alternation Syntax
- NM_001355436.2:c.6706C>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-02-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000655911
- ClinVar Disease
- Familial hemolytic anemia
- Observed Origin Sample
- germline
Drugs