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Variant : CV332627 (NM_000528.4(MAN2B1):c.2047-5C>T) Homo sapiens

Symbol: CV332627
Name: NM_000528.4(MAN2B1):c.2047-5C>T
Condition: Deficiency of alpha-mannosidase [RCV000371511]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_008318.1:g.21551C>T
NC_000019.10:g.12650227G>A
NC_000019.9:g.12761041G>A
NM_001173498.1:c.2044-5C>T
NM_000528.4:c.2047-5C>T
NM_000528.3:c.2047-5C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,650,227 - 12,650,227CLINVAR
GRCh371912,761,041 - 12,761,041CLINVAR
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: 11665122
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.