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Variant : CV548692 (NM_000528.4(MAN2B1):c.784_786del (p.Asn262del)) Homo sapiens

Symbol: CV548692
Name: NM_000528.4(MAN2B1):c.784_786del (p.Asn262del)
Condition: Deficiency of alpha-mannosidase [RCV000665620]
Clinical Significance: uncertain significance
Last Evaluated: 02/21/2017
Review Status: criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: deletion (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion
Evidence: clinical testing
HGVS Name(s): NG_008318.1:g.8336_8338del
NP_000519.2:p.Asn262del
NM_000528.4:c.784_786del
NM_001173498.1:c.784_786del
NG_015814.1:g.1639_1641del
NC_000019.10:g.12663442_12663444del
NC_000019.9:g.12774256_12774258del
NP_001166969.1:p.Asn262del
NM_000528.3:c.784_786delAAC
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,663,440 - 12,663,442CLINVAR
GRCh371912,774,253 - 12,774,256CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: Alpha-Mannosidosis



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13788840
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.