Annotation Detail
Information
- Associated Genes
- KIF1A
- Associated Variants
-
KIF1A p.Arg216Cys (p.R216C)
(
ENST00000320389.12,
ENST00000404283.9,
ENST00000431776.7,
ENST00000498729.9,
ENST00000647572.2,
ENST00000647731.1,
ENST00000648680.1,
ENST00000649096.1,
ENST00000649306.1,
ENST00000650053.1,
ENST00000650130.1,
ENST00000674907.2,
ENST00000675126.2,
ENST00000675940.2,
ENST00000647885.1,
ENST00000648047.2,
ENST00000648129.1,
ENST00000648364.1,
ENST00000715177.1 )
KIF1A p.Arg216Cys (p.R216C) ( ENST00000320389.12, ENST00000404283.9, ENST00000431776.7, ENST00000498729.9, ENST00000647572.2, ENST00000647731.1, ENST00000647885.1, ENST00000648047.2, ENST00000648129.1, ENST00000648364.1, ENST00000648680.1, ENST00000649096.1, ENST00000649306.1, ENST00000650053.1, ENST00000650130.1, ENST00000674907.2, ENST00000675126.2, ENST00000675940.2, ENST00000715177.1 ) - Associated Disease
- PEHO syndrome
- Source Database
- ClinVar
- Description
- NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) AND PEHO syndrome
- ClinVar Allele ID
- 204421
- ClinVar RefSeq Alternation Syntax
- NM_001320705.2:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379631.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379641.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379638.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379646.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379636.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379633.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_004321.8:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379645.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001330289.2:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379651.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379649.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379653.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379637.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379640.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379650.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379639.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379642.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379632.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379635.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379634.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001244008.2:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001379648.1:c.646C>T
- ClinVar RefSeq Alternation Syntax
- NM_001330290.2:c.646C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-08-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000207243
- ClinVar Disease
- PEHO syndrome
- Observed Origin Sample
- de novo
Drugs