Annotation Detail
Information
- Associated Genes
- SH2B1
- Associated Variants
-
SH2B1 p.Thr484Ala (p.T484A)
(
ENST00000322610.12,
ENST00000684370.1,
ENST00000538342.5,
ENST00000618521.4,
ENST00000395532.8,
ENST00000707128.1,
ENST00000337120.9 )
SH2B1 p.Thr484Ala (p.T484A) ( ENST00000322610.12, ENST00000337120.9, ENST00000395532.8, ENST00000538342.5, ENST00000618521.4, ENST00000684370.1, ENST00000707128.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001387430.1(SH2B1):c.1450A>G (p.Thr484Ala) AND not provided
- ClinVar Allele ID
- 1223281
- ClinVar RefSeq Alternation Syntax
- NM_001387430.1:c.1450A>G
- ClinVar RefSeq Alternation Syntax
- NM_001145797.2:c.1450A>G
- ClinVar RefSeq Alternation Syntax
- NM_001145795.2:c.1450A>G
- ClinVar RefSeq Alternation Syntax
- NM_001145796.2:c.1450A>G
- ClinVar RefSeq Alternation Syntax
- NM_001308293.2:c.1450A>G
- ClinVar RefSeq Alternation Syntax
- NM_001145812.2:c.1450A>G
- ClinVar RefSeq Alternation Syntax
- NM_015503.3:c.1450A>G
- ClinVar RefSeq Alternation Syntax
- NM_001387404.1:c.1450A>G
- ClinVar RefSeq Alternation Syntax
- NM_001308294.2:c.442A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001621215
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs