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Variant : CV195899 (NM_000528.4(MAN2B1):c.1109+3A>G) Homo sapiens

Symbol: CV195899
Name: NM_000528.4(MAN2B1):c.1109+3A>G
Condition: not specified [RCV000180172]
Clinical Significance: uncertain significance
Last Evaluated: 02/26/2015
Review Status: criteria provided, single submitter
Related Genes: MAN2B1  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): NG_008318.1:g.13353A>G
NC_000019.10:g.12658425T>C
NC_000019.9:g.12769239T>C
NM_001173498.1:c.1106+3A>G
NM_000528.4:c.1109+3A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,658,425 - 12,658,425CLINVAR
GRCh371912,769,239 - 12,769,239CLINVAR
Cytogenetic Map1919p13.13CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 10053175
Created: 2015-07-14
Species: Homo sapiens
Last Modified: 2019-11-12
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.