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Variant : CV312588 (NM_001497.3(B4GALT1):c.39G>A (p.Ala13=)) Homo sapiens

Symbol: CV312588
Name: NM_001497.3(B4GALT1):c.39G>A (p.Ala13=)
Condition: Congenital disorder of glycosylation [RCV000339562]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: B4GALT1   B4GALT1-AS1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_001497.3:c.39G>A
NG_008919.1:g.5228G>A
NC_000009.12:g.33167131C>T
NC_000009.11:g.33167129C>T
NP_001488.2:p.Ala13=
Position
Human AssemblyChrPosition (strand)Source
GRCh38933,167,131 - 33,167,131CLINVAR
GRCh37933,167,129 - 33,167,129CLINVAR
Cytogenetic Map99p21.1CLINVAR
Trait Synonyms: Carbohydrate-deficient glycoprotein syndrome



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11607110
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-12-03
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.