Annotation Detail
Information
- Associated Genes
- MAP3K1
- Associated Variants
-
MAP3K1 p.Asp806Asn (p.D806N)
(
ENST00000399503.4 )
MAP3K1 p.Asp806Asn (p.D806N) ( ENST00000399503.4 ) - Associated Disease
- 46,XY sex reversal 6
- Source Database
- ClinVar
- Description
- NM_005921.2(MAP3K1):c.2416G>A (p.Asp806Asn) AND 46,XY sex reversal 6
- ClinVar Allele ID
- 508804
- ClinVar RefSeq Alternation Syntax
- NM_005921.2:c.2416G>A
- 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/RCV000605336
- ClinVar Disease
- 46,XY sex reversal 6
- Observed Origin Sample
- germline
Drugs