Annotation Detail
Information
- Associated Genes
- AKT1
- Associated Variants
-
AKT1 p.Gln79Lys (p.Q79K)
(
ENST00000554192.6,
ENST00000554581.5,
ENST00000402615.6,
ENST00000554848.5,
ENST00000555458.6,
ENST00000407796.7,
ENST00000349310.7,
ENST00000553797.2,
ENST00000555528.5,
ENST00000649815.2,
ENST00000683722.1,
ENST00000714123.1,
ENST00000714130.1 )
AKT1 p.Gln79Lys (p.Q79K) ( ENST00000349310.7, ENST00000402615.6, ENST00000407796.7, ENST00000553797.2, ENST00000554192.6, ENST00000554581.5, ENST00000554848.5, ENST00000555458.6, ENST00000555528.5, ENST00000649815.2, ENST00000683722.1, ENST00000714123.1, ENST00000714130.1 ) - Associated Disease
- melanoma
- Source Database
- ClinVar
- Description
- NM_001382430.1(AKT1):c.235C>A (p.Gln79Lys) AND Melanoma
- ClinVar Allele ID
- 363047
- ClinVar RefSeq Alternation Syntax
- NM_005163.2:c.235C>A
- ClinVar RefSeq Alternation Syntax
- NM_001382432.1:c.235C>A
- ClinVar RefSeq Alternation Syntax
- NM_001382433.1:c.235C>A
- ClinVar RefSeq Alternation Syntax
- NM_001382431.1:c.235C>A
- ClinVar RefSeq Alternation Syntax
- NM_001382430.1:c.235C>A
- ClinVar RefSeq Alternation Syntax
- NM_001014432.2:c.235C>A
- ClinVar RefSeq Alternation Syntax
- NM_001014431.2:c.235C>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2014-12-26
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000422108
- ClinVar Disease
- Melanoma
- Observed Origin Sample
- somatic
Drugs