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Variant : CV99116 (NM_000528.4(MAN2B1):c.1224C>A (p.Phe408Leu)) Homo sapiens

Symbol: CV99116
Name: NM_000528.4(MAN2B1):c.1224C>A (p.Phe408Leu)
Condition: not specified [RCV000079072]
Clinical Significance: uncertain significance
Last Evaluated: 03/13/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: clinical testing
HGVS Name(s): NG_008318.1:g.13548C>A
NC_000019.10:g.12658230G>T
NC_000019.9:g.12769044G>T
NP_000519.2:p.Phe408Leu
NM_000528.4:c.1224C>A
NM_000528.3:c.1224C>A
NP_000519.2:p.Phe408Leu
NP_000519.2:p.Phe408Leu
NM_001173498.1:c.1221C>A
NP_001166969.1:p.Phe407Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,658,230 - 12,658,230CLINVAR
GRCh371912,769,044 - 12,769,044CLINVAR
Cytogenetic Map1919p13.13CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8640132
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.