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

Variant : CV332610 (NM_000528.4(MAN2B1):c.*105C>G) Homo sapiens

Symbol: CV332610
Name: NM_000528.4(MAN2B1):c.*105C>G
Condition: Deficiency of alpha-mannosidase [RCV000380408]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NG_008318.1:g.25263C>G
NC_000019.10:g.12646515G>C
NC_000019.9:g.12757329G>C
NM_000528.4:c.*105C>G
NM_001173498.1:c.*105C>G
NM_000528.3:c.*105C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,646,515 - 12,646,515CLINVAR
GRCh371912,757,329 - 12,757,329CLINVAR
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: 11665141
Created: 2017-01-11
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

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