Annotation Detail
Information
- Associated Genes
- CASP7
- Associated Variants
-
CASP7 p.Asp340Glu (p.D340E)
(
ENST00000452490.3,
ENST00000621607.4,
ENST00000621345.4,
ENST00000369331.8,
ENST00000369318.8,
ENST00000672138.1,
ENST00000369321.6,
ENST00000345633.8,
ENST00000614447.4,
ENST00000369315.5 )
CASP7 p.Asp340Glu (p.D340E) ( ENST00000345633.8, ENST00000369315.5, ENST00000369318.8, ENST00000369321.6, ENST00000369331.8, ENST00000452490.3, ENST00000614447.4, ENST00000621345.4, ENST00000621607.4, ENST00000672138.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001227.5(CASP7):c.765C>G (p.Asp255Glu) AND not provided
- ClinVar Allele ID
- 1236524
- ClinVar RefSeq Alternation Syntax
- NM_001320911.2:c.789C>G
- ClinVar RefSeq Alternation Syntax
- NM_001267058.2:c.690C>G
- ClinVar RefSeq Alternation Syntax
- NM_033340.4:c.731C>G
- ClinVar RefSeq Alternation Syntax
- NM_001267057.1:c.1020C>G
- ClinVar RefSeq Alternation Syntax
- NM_001227.5:c.765C>G
- ClinVar RefSeq Alternation Syntax
- NM_033338.6:c.864C>G
- ClinVar RefSeq Alternation Syntax
- NM_001267056.2:c.765C>G
- ClinVar RefSeq Alternation Syntax
- NM_033339.5:c.765C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-02-23
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001641928
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs