Annotation Detail
Information
- Associated Genes
- TGFBR2
- Associated Variants
-
TGFBR2 c.170-3300G>C
(
ENST00000295754.10,
ENST00000359013.4,
ENST00000714389.1,
ENST00000714390.1,
ENST00000714391.1 )
TGFBR2 c.170-3300G>C ( ENST00000295754.10, ENST00000359013.4, ENST00000714389.1, ENST00000714390.1, ENST00000714391.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_003242.6(TGFBR2):c.95-3300G>C AND not provided
- ClinVar Allele ID
- 227595
- ClinVar RefSeq Alternation Syntax
- NM_001024847.3:c.170-3300G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407134.1:c.-11-3300G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407127.1:c.95-3300G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407126.1:c.170-3300G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407129.1:c.-11-3300G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407138.1:c.95-30191G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407132.1:c.-11-3300G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407135.1:c.-11-3300G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407128.1:c.122-3300G>C
- ClinVar RefSeq Alternation Syntax
- NM_003242.6:c.95-3300G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407139.1:c.170-3300G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407130.1:c.95-3300G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407133.1:c.-11-3300G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407137.1:c.169+18174G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407136.1:c.-11-3300G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-06-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001675674
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs