Annotation Detail
Information
- Associated Genes
- KRAS
- Associated Variants
-
KRAS p.Gly12Asp (p.G12D)
(
ENST00000256078.10,
ENST00000311936.8,
ENST00000556131.2,
ENST00000557334.6,
ENST00000685328.1,
ENST00000686969.1,
ENST00000688940.1,
ENST00000692768.1,
ENST00000693229.1 )
KRAS p.Gly12Asp (p.G12D) ( ENST00000692768.1, ENST00000256078.10, ENST00000311936.8, ENST00000556131.2, ENST00000557334.6, ENST00000685328.1, ENST00000686969.1, ENST00000688940.1, ENST00000693229.1 ) - Associated Disease
- linear nevus sebaceous syndrome
- Source Database
- ClinVar
- Description
- NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) AND Linear nevus sebaceous syndrome
- ClinVar Allele ID
- 27621
- ClinVar RefSeq Alternation Syntax
- NM_033360.4:c.35G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369787.1:c.35G>A
- ClinVar RefSeq Alternation Syntax
- NM_004985.5:c.35G>A
- ClinVar RefSeq Alternation Syntax
- NM_001369786.1:c.35G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000029215
- ClinVar Disease
- Linear nevus sebaceous syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- somatic
- Pubmed
- 8439212
- Pubmed
- 22499344
- Pubmed
- 22683711
- Pubmed
- 7773929
- Pubmed
- 20805368
- Pubmed
- 20949522
- Pubmed
- 17332249
- Pubmed
- 21079152
Drugs