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Variant : CV548695 (NM_000528.4(MAN2B1):c.764-1G>C) Homo sapiens

Symbol: CV548695
Name: NM_000528.4(MAN2B1):c.764-1G>C
Condition: Deficiency of alpha-mannosidase [RCV000670394]
Clinical Significance: likely pathogenic
Last Evaluated: 11/01/2017
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): NM_000528.4:c.764-1G>C
NC_000019.9:g.12774277C>G
NG_008318.1:g.8315G>C
NC_000019.10:g.12663463C>G
NM_001173498.1:c.764-1G>C
NG_015814.1:g.1660C>G
NM_000528.3:c.764-1G>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,663,463 - 12,663,463CLINVAR
GRCh371912,774,277 - 12,774,277CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: Alpha-Mannosidosis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13783869
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.