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Variant : CV348147 (NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=)) Homo sapiens

Symbol: CV348147
Name: NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=)
Condition: Deficiency of alpha-mannosidase [RCV000360420]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: 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.13455C>T
NC_000019.10:g.12658323G>A
NC_000019.9:g.12769137G>A
NP_000519.2:p.Phe377=
NM_001173498.1:c.1128C>T
NM_000528.4:c.1131C>T
NM_000528.3:c.1131C>T
NP_001166969.1:p.Phe376=
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,658,323 - 12,658,323CLINVAR
GRCh371912,769,137 - 12,769,137CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: Alpha-Mannosidosis
Age Of Onset: childhood
Prevalence: 1-9 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11665094
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.