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Variant : CV348138 (NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=)) Homo sapiens

Symbol: CV348138
Name: NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=)
Condition: Deficiency of alpha-mannosidase [RCV000308550]|not provided [RCV000675474]
Clinical Significance: benign|likely benign|conflicting interpretations of pathogenicity
Last Evaluated: 08/15/2017
Review Status: criteria provided, conflicting interpretations|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
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.23501C>G
NC_000019.10:g.12648277G>C
NC_000019.9:g.12759091G>C
NP_000519.2:p.Ala854=
NM_001173498.1:c.2559C>G
NM_000528.4:c.2562C>G
NM_000528.3:c.2562C>G
NP_001166969.1:p.Ala853=
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,648,277 - 12,648,277CLINVAR
GRCh371912,759,091 - 12,759,091CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: Alpha-Mannosidosis
Age Of Onset: childhood
Prevalence: 1-9 / 1 000 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11664987
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.