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Variant : CV16723 (NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)) Homo sapiens

Symbol: CV16723
Name: NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)
Condition: Deficiency of alpha-mannosidase [RCV000001752]
Clinical Significance: pathogenic|conflicting interpretations of pathogenicity
Last Evaluated: 04/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant|2kb upstream variant
Evidence: literature only
HGVS Name(s): NG_008318.1:g.6028A>T
NC_000019.10:g.12665750T>A
NC_000019.9:g.12776564T>A
NP_000519.2:p.His72Leu
O00754:p.His72Leu
NM_001173498.1:c.215A>T
NG_015814.1:g.3947T>A
NM_000528.3:c.215A>T
NP_000519.2:p.His72Leu
NM_000528.4:c.215A>T
NP_000519.2:p.His72Leu
NP_001166969.1:p.His72Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,665,750 - 12,665,750CLINVAR
GRCh371912,776,564 - 12,776,564CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: alpha-Mannosidosis
Age Of Onset: childhood|neonatal/infancy
Prevalence: 1-9 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8595457
Created: 2014-05-13
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.