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Variant : CV348152 (NM_000528.4(MAN2B1):c.-19A>G) Homo sapiens

Symbol: CV348152
Name: NM_000528.4(MAN2B1):c.-19A>G
Condition: Deficiency of alpha-mannosidase [RCV000407641]
Clinical Significance: uncertain significance
Last Evaluated: 07/27/2017
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_008318.1:g.5058A>G
NC_000019.10:g.12666720T>C
NC_000019.9:g.12777534T>C
NM_000528.4:c.-19A>G
NM_001173498.1:c.-19A>G
NG_015814.1:g.4917T>C
NM_000528.3:c.-19A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,666,720 - 12,666,720CLINVAR
GRCh371912,777,534 - 12,777,534CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: Alpha-Mannosidosis
Age Of Onset: childhood
Prevalence: 1-9 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11665203
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-05
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.