Annotation Detail
Information
- Associated Genes
- CBLB
- Associated Variants
-
CBLB p.Ala621= (p.A621=)
(
ENST00000394030.8,
ENST00000403724.5,
ENST00000405772.5 )
CBLB p.Ala621= (p.A621=) ( ENST00000394030.8, ENST00000403724.5, ENST00000405772.5 ) - Associated Disease
- CBLB-related disorder
- Source Database
- ClinVar
- Description
- NM_170662.5(CBLB):c.1863G>A (p.Ala621=) AND CBLB-related disorder
- ClinVar Allele ID
- 3197292
- ClinVar RefSeq Alternation Syntax
- NM_001321789.1:c.1947G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321813.1:c.1083G>A
- ClinVar RefSeq Alternation Syntax
- NR_135807.2:n.2202G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321790.2:c.1929G>A
- ClinVar RefSeq Alternation Syntax
- NR_135808.2:n.2154G>A
- ClinVar RefSeq Alternation Syntax
- NR_135811.2:n.1978G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321822.2:c.534G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321799.2:c.1716G>A
- ClinVar RefSeq Alternation Syntax
- NR_135806.2:n.2286G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321786.1:c.1947G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321788.2:c.1863G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321811.2:c.1083G>A
- ClinVar RefSeq Alternation Syntax
- NR_135809.2:n.2268G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321798.2:c.1863G>A
- ClinVar RefSeq Alternation Syntax
- NR_135810.2:n.1942G>A
- ClinVar RefSeq Alternation Syntax
- NM_170662.5:c.1863G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321796.2:c.1716G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321797.2:c.1863G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321791.2:c.1863G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321808.2:c.1083G>A
- ClinVar RefSeq Alternation Syntax
- NR_135812.1:n.1905G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321807.2:c.1083G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321795.2:c.1863G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321794.2:c.1863G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321820.2:c.675G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321806.2:c.1083G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321793.2:c.1863G>A
- ClinVar RefSeq Alternation Syntax
- NM_001321816.2:c.1083G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-05-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003982388
- ClinVar Disease
- CBLB-related disorder
- Observed Origin Sample
- germline
Drugs