Annotation Detail
Information
- Associated Genes
- ELN
- Associated Variants
-
ELN c.196+71G>A
(
ENST00000252034.12,
ENST00000320399.10,
ENST00000320492.11,
ENST00000357036.9,
ENST00000380553.8,
ENST00000380562.8,
ENST00000380575.8,
ENST00000380576.9,
ENST00000380584.8,
ENST00000414324.5,
ENST00000429192.5,
ENST00000445912.5,
ENST00000458204.5,
ENST00000621115.4,
ENST00000692049.1 )
ELN c.196+71G>A ( ENST00000252034.12, ENST00000320399.10, ENST00000320492.11, ENST00000357036.9, ENST00000380553.8, ENST00000380562.8, ENST00000380575.8, ENST00000380576.9, ENST00000380584.8, ENST00000414324.5, ENST00000429192.5, ENST00000445912.5, ENST00000458204.5, ENST00000621115.4, ENST00000692049.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000501.4(ELN):c.196+71G>A AND not provided
- ClinVar Allele ID
- 1286972
- ClinVar RefSeq Alternation Syntax
- NM_001278918.2:c.166+71G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278917.2:c.166+71G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278913.2:c.196+71G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278915.2:c.196+71G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278914.2:c.166+71G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278916.2:c.196+71G>A
- ClinVar RefSeq Alternation Syntax
- NM_001081755.3:c.196+71G>A
- ClinVar RefSeq Alternation Syntax
- NM_001081754.3:c.196+71G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278912.2:c.196+71G>A
- ClinVar RefSeq Alternation Syntax
- NM_001278939.2:c.196+71G>A
- ClinVar RefSeq Alternation Syntax
- NM_001081752.3:c.166+71G>A
- ClinVar RefSeq Alternation Syntax
- NM_000501.4:c.196+71G>A
- ClinVar RefSeq Alternation Syntax
- NM_001081753.3:c.196+71G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2015-03-03
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001724887
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs