Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV308185 (NM_001497.3(B4GALT1):c.*1499C>T) Homo sapiens

Symbol: CV308185
Name: NM_001497.3(B4GALT1):c.*1499C>T
Condition: Congenital disorder of glycosylation [RCV000373458]
Clinical Significance: uncertain significance
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.*1499C>T
NG_008919.1:g.60404C>T
NC_000009.12:g.33111955G>A
NC_000009.11:g.33111953G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38933,111,955 - 33,111,955CLINVAR
GRCh37933,111,953 - 33,111,953CLINVAR
Cytogenetic Map99p21.1CLINVAR
Trait Synonyms: Carbohydrate-deficient glycoprotein syndrome



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11609828
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE



NHLBI Logo

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