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Variant : CV670038 (NM_000528.4(MAN2B1):c.1026+251T>C) Homo sapiens

Symbol: CV670038
Name: NM_000528.4(MAN2B1):c.1026+251T>C
Condition: not provided [RCV000844589]
Clinical Significance: benign
Last Evaluated: 06/19/2018
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): NM_000528.4:c.1026+251T>C
NM_001173498.1:c.1026+251T>C
NG_008318.1:g.10769T>C
NC_000019.10:g.12661009A>G
NC_000019.9:g.12771823A>G
NM_000528.3:c.1026+251T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh381912,661,009 - 12,661,009CLINVAR
GRCh371912,771,823 - 12,771,823CLINVAR
Cytogenetic Map1919p13.13CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14746564
Created: 2019-09-06
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.