Annotation Detail
Information
- Associated Genes
- TFRC
- Associated Variants
-
TFRC p.Gly142Ser (p.G142S)
(
ENST00000360110.9,
ENST00000392396.7,
ENST00000420415.5,
ENST00000698280.1,
ENST00000698283.1,
ENST00000698285.1,
ENST00000698286.1,
ENST00000698290.1,
ENST00000698291.1,
ENST00000698295.1 )
TFRC p.Gly142Ser (p.G142S) ( ENST00000360110.9, ENST00000392396.7, ENST00000420415.5, ENST00000698280.1, ENST00000698283.1, ENST00000698285.1, ENST00000698286.1, ENST00000698290.1, ENST00000698291.1, ENST00000698295.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001128148.3(TFRC):c.424G>A (p.Gly142Ser) AND not specified
- ClinVar Allele ID
- 1154422
- ClinVar RefSeq Alternation Syntax
- NM_001313966.2:c.-412-1788G>A
- ClinVar RefSeq Alternation Syntax
- NM_001128148.3:c.424G>A
- ClinVar RefSeq Alternation Syntax
- NM_003234.4:c.424G>A
- ClinVar RefSeq Alternation Syntax
- NM_001313965.2:c.181G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-11-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003394087
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs