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Variant : CV548688 (NM_000528.4(MAN2B1):c.2046+1G>T) Homo sapiens

Symbol: CV548688
Name: NM_000528.4(MAN2B1):c.2046+1G>T
Condition: Deficiency of alpha-mannosidase [RCV000673482]
Clinical Significance: likely pathogenic
Last Evaluated: 03/18/2018
Review Status: criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001575)
Source: CLINVAR
Molecular Consequence: splice donor variant
Evidence: clinical testing
HGVS Name(s): NM_001173498.1:c.2043+1G>T
NG_008318.1:g.19626G>T
NC_000019.10:g.12652152C>A
NC_000019.9:g.12762966C>A
NM_000528.4:c.2046+1G>T
NM_000528.3:c.2046+1G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,652,152 - 12,652,152CLINVAR
GRCh371912,762,966 - 12,762,966CLINVAR
Cytogenetic Map1919p13.13CLINVAR
Trait Synonyms: Alpha-Mannosidosis



Disease Annotations

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13787491
Created: 2018-09-11
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.