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Variant : CV367816 (NM_001128174.3(UGT8):c.811C>T (p.Pro271Ser)) Homo sapiens

Symbol: CV367816
Name: NM_001128174.3(UGT8):c.811C>T (p.Pro271Ser)
Condition: not specified [RCV000436700]
Clinical Significance: uncertain significance
Last Evaluated: 01/17/2017
Review Status: criteria provided, single submitter
Related Genes: UGT8  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001322114.1:c.811C>T
NM_003360.4:c.811C>T
NM_001128174.2:c.811C>T
NC_000004.12:g.114623691C>T
NC_000004.11:g.115544847C>T
NM_001128174.3:c.811C>T
NM_001322112.1:c.811C>T
NM_001322113.1:c.811C>T
NP_001121646.2:p.Pro271Ser
NP_001309041.1:p.Pro271Ser
NP_001309042.1:p.Pro271Ser
NP_001309043.1:p.Pro271Ser
NP_003351.2:p.Pro271Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh384114,623,691 - 114,623,691CLINVAR
GRCh374115,544,847 - 115,544,847CLINVAR
Cytogenetic Map44q26CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12843710
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-07
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.