Annotation Detail
Information
- Associated Genes
- KIF1B LOC126805614
- Associated Variants
-
KIF1B p.Asp958= (p.D958=)
(
ENST00000377086.5,
ENST00000377081.5,
ENST00000263934.10,
ENST00000696503.1,
ENST00000620295.2,
ENST00000622724.3,
ENST00000676179.1,
ENST00000696502.1,
ENST00000696504.1 )
KIF1B p.Asp958= (p.D958=) ( ENST00000263934.10, ENST00000377081.5, ENST00000377086.5, ENST00000620295.2, ENST00000622724.3, ENST00000676179.1, ENST00000696502.1, ENST00000696503.1, ENST00000696504.1 ) - Associated Disease
- Charcot-Marie-Tooth disease
- Source Database
- ClinVar
- Description
- NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=) AND Charcot-Marie-Tooth disease
- ClinVar Allele ID
- 275733
- ClinVar RefSeq Alternation Syntax
- NM_001365951.3:c.2874C>T
- ClinVar RefSeq Alternation Syntax
- NM_015074.3:c.2736C>T
- ClinVar RefSeq Alternation Syntax
- NM_001365952.1:c.2874C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001172595
- ClinVar Disease
- Charcot-Marie-Tooth disease
- Observed Origin Sample
- germline
Drugs