Annotation Detail
Information
- Associated Genes
- KCNJ13 GIGYF2
- Associated Variants
-
GIGYF2 c.532+7354G>A, KCNJ13 p.Arg162Trp (p.R162W)
(
ENST00000233826.4,
ENST00000409779.1,
ENST00000410029.1,
ENST00000373563.9,
ENST00000409196.7,
ENST00000409451.7,
ENST00000409480.5,
ENST00000409547.5,
ENST00000629305.2,
ENST00000677591.1,
ENST00000678466.1 )
GIGYF2 c.532+7354G>A, KCNJ13 p.Arg162Trp (p.R162W) ( ENST00000233826.4, ENST00000409779.1, ENST00000410029.1, ENST00000373563.9, ENST00000409196.7, ENST00000409451.7, ENST00000409480.5, ENST00000409547.5, ENST00000629305.2, ENST00000677591.1, ENST00000678466.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp) AND not provided
- ClinVar Allele ID
- 21624
- ClinVar RefSeq Alternation Syntax
- NM_001172416.1:c.248C>T
- ClinVar RefSeq Alternation Syntax
- NM_001103148.2:c.532+7354G>A
- ClinVar RefSeq Alternation Syntax
- NM_001172417.1:c.244C>T
- ClinVar RefSeq Alternation Syntax
- NM_002242.4:c.484C>T
- ClinVar RefSeq Alternation Syntax
- NM_001103147.2:c.532+7354G>A
- ClinVar RefSeq Alternation Syntax
- NM_001103146.3:c.532+7354G>A
- ClinVar RefSeq Alternation Syntax
- NM_015575.4:c.532+7354G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-10-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001389454
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs