Annotation Detail
Information
- Associated Genes
- KIF1B
- Associated Variants
-
KIF1B c.2115+6205C>T
(
ENST00000676179.1,
ENST00000377081.5,
ENST00000696502.1,
ENST00000377086.5,
ENST00000620295.2,
ENST00000377083.5,
ENST00000696504.1,
ENST00000263934.10,
ENST00000622724.3,
ENST00000377093.9,
ENST00000696503.1 )
KIF1B c.2115+6205C>T ( ENST00000263934.10, ENST00000377081.5, ENST00000377083.5, ENST00000377086.5, ENST00000377093.9, ENST00000620295.2, ENST00000622724.3, ENST00000676179.1, ENST00000696502.1, ENST00000696503.1, ENST00000696504.1 ) - Associated Disease
- Hemihypertrophy
- Source Database
- ClinVar
- Description
- NM_001365951.3(KIF1B):c.2115+6205C>T AND multiple conditions
- ClinVar Allele ID
- 263934
- ClinVar RefSeq Alternation Syntax
- NM_015074.3:c.1977+6205C>T
- ClinVar RefSeq Alternation Syntax
- NM_001365953.1:c.2266C>T
- ClinVar RefSeq Alternation Syntax
- NM_183416.4:c.2266C>T
- ClinVar RefSeq Alternation Syntax
- NM_001365952.1:c.2115+6205C>T
- ClinVar RefSeq Alternation Syntax
- NM_001365951.3:c.2115+6205C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2014-03-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000415405
- ClinVar Disease
- Hemihypertrophy
- Observed Origin Sample
- unknown
Drugs