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Variant : CV647698 (NM_000528.4(MAN2B1):c.1933_1935del (p.Asn645del)) Homo sapiens

Symbol: CV647698
Name: NM_000528.4(MAN2B1):c.1933_1935del (p.Asn645del)
Condition: Deficiency of alpha-mannosidase [RCV000818869]
Clinical Significance: uncertain significance
Last Evaluated: 09/20/2018
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): NM_001173498.1:c.1930_1932del
NM_000528.4:c.1933_1935del
NG_008318.1:g.19512_19514del
NC_000019.10:g.12652266_12652268del
NC_000019.9:g.12763080_12763082del
NM_000528.3:c.1933_1935delAAC
NP_001166969.1:p.Asn644del
NP_000519.2:p.Asn645del
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,652,266 - 12,652,268CLINVAR
GRCh371912,763,078 - 12,763,080CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: Alpha-Mannosidosis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14733826
Created: 2019-09-06
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.