Annotation Detail
Information
- Associated Genes
- PALB2
- Associated Variants
-
PALB2 c.2515-1G>C
(
ENST00000568219.5,
ENST00000697374.1,
ENST00000697377.2,
ENST00000713774.1,
ENST00000566069.6,
ENST00000261584.9,
ENST00000697379.2,
ENST00000697383.1,
ENST00000561514.3,
ENST00000697376.1 )
PALB2 c.2515-1G>C ( ENST00000261584.9, ENST00000561514.3, ENST00000566069.6, ENST00000568219.5, ENST00000697374.1, ENST00000697376.1, ENST00000697377.2, ENST00000697379.2, ENST00000697383.1, ENST00000713774.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_024675.4(PALB2):c.2515-1G>C AND not provided
- ClinVar Allele ID
- 213165
- ClinVar RefSeq Alternation Syntax
- NM_001407299.1:c.2515-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407308.1:c.1630-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407296.1:c.2455-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407302.1:c.2515-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407309.1:c.1630-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407310.1:c.1630-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407311.1:c.1630-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407298.1:c.2515-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407307.1:c.1630-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407306.1:c.1630-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407297.1:c.2514+364G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407300.1:c.2515-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407305.1:c.1630-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407314.1:c.49-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407304.1:c.1630-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_024675.4:c.2515-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407301.1:c.2515-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407313.1:c.727-1G>C
- ClinVar RefSeq Alternation Syntax
- NM_001407312.1:c.727-1G>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2019-04-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000985889
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs