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Variant : CV548687 (NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)) Homo sapiens

Symbol: CV548687
Name: NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)
Condition: Deficiency of alpha-mannosidase [RCV000669668]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 03/19/2018
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_008318.1:g.22437G>A
NC_000019.10:g.12649341C>T
NC_000019.9:g.12760155C>T
NP_000519.2:p.Thr785=
NM_001173498.1:c.2352G>A
NM_000528.4:c.2355G>A
NM_000528.3:c.2355G>A
NP_001166969.1:p.Thr784=
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,649,341 - 12,649,341CLINVAR
GRCh371912,760,155 - 12,760,155CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: Alpha-Mannosidosis



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13783081
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.