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Variant : CV312547 (NM_001497.3(B4GALT1):c.*2104T>C) Homo sapiens

Symbol: CV312547
Name: NM_001497.3(B4GALT1):c.*2104T>C
Condition: Congenital disorder of glycosylation [RCV000270491]
Clinical Significance: likely benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: B4GALT1  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NM_001497.3:c.*2104T>C
NG_008919.1:g.61009T>C
NC_000009.12:g.33111350A>G
NC_000009.11:g.33111348A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38933,111,350 - 33,111,350CLINVAR
GRCh37933,111,348 - 33,111,348CLINVAR
Cytogenetic Map99p21.1CLINVAR
Trait Synonyms: Carbohydrate-deficient glycoprotein syndrome



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11600017
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.