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Variant : CV308170 (NM_001497.3(B4GALT1):c.*2398del) Homo sapiens

Symbol: CV308170
Name: NM_001497.3(B4GALT1):c.*2398del
Condition: Congenital disorder of glycosylation [RCV000400836]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: B4GALT1  
Variant Type: deletion (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001497.3:c.*2398delC
NM_001497.3:c.*2398del
NG_008919.1:g.61303del
NC_000009.12:g.33111056del
NC_000009.11:g.33111054del
Position
Human AssemblyChrPosition (strand)Source
GRCh38933,111,056 - 33,111,056CLINVAR
GRCh37933,111,054 - 33,111,054CLINVAR
Cytogenetic Map99p21.1CLINVAR
Trait Synonyms: Carbohydrate-deficient glycoprotein syndrome



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11663916
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-10-20
Status: ACTIVE



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