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Variant : CV588188 (NM_000528.4(MAN2B1):c.355G>C (p.Val119Leu)) Homo sapiens

Symbol: CV588188
Name: NM_000528.4(MAN2B1):c.355G>C (p.Val119Leu)
Condition: not provided [RCV000733155]
Clinical Significance: uncertain significance
Last Evaluated: 05/16/2018
Review Status: criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_000528.4:c.355G>C
NG_008318.1:g.6345G>C
NC_000019.10:g.12665433C>G
NC_000019.9:g.12776247C>G
NP_000519.2:p.Val119Leu
NM_001173498.1:c.355G>C
NG_015814.1:g.3630C>G
NP_001166969.1:p.Val119Leu
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,665,433 - 12,665,433CLINVAR
GRCh371912,776,247 - 12,776,247CLINVAR
Cytogenetic Map1919p13.13CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13836905
Created: 2019-01-08
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.