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Variant : CV106814 (NC_000009.11:g.(34644527_34645701)_(34650746_34653247)del) Homo sapiens

Symbol: CV106814
Name: NC_000009.11:g.(34644527_34645701)_(34650746_34653247)del
Condition: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV000087307]
Clinical Significance: pathogenic
Last Evaluated: 10/01/2006
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: GALT   IL11RA  
Variant Type: deletion (SO:0000159)
Evidence: literature only
HGVS Name(s): NC_000009.11:g.(34644527_34645701)_(34650746_34653247)del
Human AssemblyChrPosition (strand)Source
GRCh38934,645,704 - 34,650,749 (+)CLINVAR
GRCh37934,645,701 - 34,650,746CLINVAR
Cytogenetic Map99p13.3CLINVAR
Trait Synonyms: GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY; Galactosemia, classic; GALT deficiency; Transferase Deficiency Galactosemia
Age Of Onset: neonatal/infancy
Prevalence: 1-9 / 100 000

Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8647142
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.