Annotation Detail
Information
- Associated Genes
- SKIC2
- Associated Variants
-
SKIC2 p.Gln151Arg (p.Q151R)
(
ENST00000375394.7,
ENST00000491994.2,
ENST00000697831.1,
ENST00000697838.1,
ENST00000697840.1 )
SKIC2 p.Gln151Arg (p.Q151R) ( ENST00000375394.7, ENST00000491994.2, ENST00000697831.1, ENST00000697838.1, ENST00000697840.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_006929.5(SKIC2):c.452A>G (p.Gln151Arg) AND not provided
- ClinVar Allele ID
- 306855
- ClinVar RefSeq Alternation Syntax
- NM_006929.5:c.452A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001518264
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs