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Variant : CV532700 (NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp)) Homo sapiens

Symbol: CV532700
Name: NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp)
Condition: Deficiency of alpha-mannosidase [RCV000631884]
Clinical Significance: uncertain significance
Last Evaluated: 06/18/2018
Review Status: criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NG_008318.1:g.24539A>G
NC_000019.10:g.12647239T>C
NC_000019.9:g.12758053T>C
NP_000519.2:p.Asn973Asp
NM_001173498.1:c.2914A>G
NM_000528.4:c.2917A>G
NM_000528.3:c.2917A>G
NP_001166969.1:p.Asn972Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,647,239 - 12,647,239CLINVAR
GRCh371912,758,053 - 12,758,053CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: Alpha-Mannosidosis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13614352
Created: 2018-06-12
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.