Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Val397Met (p.V397M)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000615310.5,
ENST00000355710.8 )
RET p.Val397Met (p.V397M) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_020975.6(RET):c.1189G>A (p.Val397Met) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 460265
- ClinVar RefSeq Alternation Syntax
- NM_001406762.1:c.1060G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406775.1:c.463G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406767.1:c.901G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406770.1:c.901G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406764.1:c.1060G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406761.1:c.1060G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406778.1:c.463G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406773.1:c.751G>A
- ClinVar RefSeq Alternation Syntax
- NM_020630.7:c.1189G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406759.1:c.1189G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406743.1:c.1189G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406744.1:c.1189G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406763.1:c.1189G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406765.1:c.1189G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406771.1:c.751G>A
- ClinVar RefSeq Alternation Syntax
- NM_020629.2:c.1189G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406760.1:c.1189G>A
- ClinVar RefSeq Alternation Syntax
- NM_020975.6:c.1189G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406776.1:c.463G>A
- ClinVar RefSeq Alternation Syntax
- NM_000323.2:c.1189G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406766.1:c.901G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406768.1:c.1060G>A
- ClinVar RefSeq Alternation Syntax
- NM_001355216.2:c.427G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406777.1:c.463G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406784.1:c.199G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-10-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004024396
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs