Entry Search - 277460 600415 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '277460 600415 (Search in: MIM number)'
Results: 2 entries.

1:
* 600415. TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA
Cytogenetic location: 8q12.3, Genomic coordinates (GRCh38): 8:63,058,409-63,086,053
Matching terms: 600415
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
8q12.3 Ataxia with isolated vitamin E deficiency 277460 AR 3

2:
# 277460. ATAXIA WITH VITAMIN E DEFICIENCY; AVED
Cytogenetic location: 8q12.3
Matching terms: 277460
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
8q12.3 Ataxia with isolated vitamin E deficiency 277460 AR 3 TTPA 600415
ICD+
SNOMEDCT: 702442008
ORPHA: 96
DO: 0090028
Search: 277460 600415 (Search in: MIM number)
Results: 2 entries.

1:
* 600415. TOCOPHEROL TRANSFER PROTEIN, ALPHA; TTPA
Cytogenetic location: 8q12.3, Genomic coordinates (GRCh38): 8:63,058,409-63,086,053
Matching terms: 600415

2:
# 277460. ATAXIA WITH VITAMIN E DEFICIENCY; AVED
Cytogenetic location: 8q12.3
Matching terms: 277460