Annotation Detail
Information
- Associated Genes
- CACNB2
- Associated Variants
-
CACNB2 p.Thr504Ile (p.T504I)
(
ENST00000377319.9,
ENST00000377329.10,
ENST00000617363.4,
ENST00000645287.2,
ENST00000377315.6,
ENST00000396576.6,
ENST00000282343.13,
ENST00000652391.1,
ENST00000324631.13,
ENST00000615785.4,
ENST00000650685.1,
ENST00000352115.10,
ENST00000377328.5 )
CACNB2 p.Thr504Ile (p.T504I) ( ENST00000282343.13, ENST00000324631.13, ENST00000352115.10, ENST00000377315.6, ENST00000377319.9, ENST00000377328.5, ENST00000377329.10, ENST00000396576.6, ENST00000615785.4, ENST00000617363.4, ENST00000645287.2, ENST00000650685.1, ENST00000652391.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) AND not specified
- ClinVar Allele ID
- 171122
- ClinVar RefSeq Alternation Syntax
- NM_201570.3:c.1367C>T
- ClinVar RefSeq Alternation Syntax
- NM_001330060.2:c.1232C>T
- ClinVar RefSeq Alternation Syntax
- NM_201593.3:c.1397C>T
- ClinVar RefSeq Alternation Syntax
- NM_201572.4:c.1355C>T
- ClinVar RefSeq Alternation Syntax
- NM_201590.3:c.1349C>T
- ClinVar RefSeq Alternation Syntax
- NM_201571.4:c.1427C>T
- ClinVar RefSeq Alternation Syntax
- NM_201596.3:c.1511C>T
- ClinVar RefSeq Alternation Syntax
- NM_001167945.2:c.1313C>T
- ClinVar RefSeq Alternation Syntax
- NM_000724.4:c.1346C>T
- ClinVar RefSeq Alternation Syntax
- NM_201597.3:c.1439C>T
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2017-12-18
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000185500
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs