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Variant : CV318973 (NM_001497.3(B4GALT1):c.392C>T (p.Pro131Leu)) Homo sapiens

Symbol: CV318973
Name: NM_001497.3(B4GALT1):c.392C>T (p.Pro131Leu)
Condition: Congenital disorder of glycosylation [RCV000326771]|not provided [RCV001245732]
Clinical Significance: uncertain significance
Last Evaluated: 03/15/2019
Review Status: criteria provided, single submitter
Related Genes: B4GALT1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001497.3:c.392C>T
NG_008919.1:g.5581C>T
NC_000009.12:g.33166778G>A
NC_000009.11:g.33166776G>A
NP_001488.2:p.Pro131Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh38933,166,778 - 33,166,778CLINVAR
GRCh37933,166,776 - 33,166,776CLINVAR
Cytogenetic Map99p21.1CLINVAR
Trait Synonyms: Carbohydrate-deficient glycoprotein syndrome



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11606031
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2020-10-15
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.