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Variant : CV550635 (NM_000528.4(MAN2B1):c.1645-1G>A) Homo sapiens

Symbol: CV550635
Name: NM_000528.4(MAN2B1):c.1645-1G>A
Condition: Deficiency of alpha-mannosidase [RCV000677673]
Clinical Significance: likely pathogenic
Last Evaluated: 07/29/2015
Review Status: criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001574)
Source: CLINVAR
Molecular Consequence: splice acceptor variant
Evidence: clinical testing
HGVS Name(s): NG_008318.1:g.15898G>A
NC_000019.10:g.12655880C>T
NC_000019.9:g.12766694C>T
NM_001173498.1:c.1642-1G>A
NM_000528.4:c.1645-1G>A
NM_000528.3:c.1645-1G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,655,880 - 12,655,880CLINVAR
GRCh371912,766,694 - 12,766,694CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: Alpha-Mannosidosis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13783982
Created: 2018-09-11
Species: Homo sapiens
Last Modified: 2019-11-12
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.