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Variant : CV741063 (NM_001143998.2(SEC14L1):c.1948C>T (p.Pro650Ser)) Homo sapiens

Symbol: CV741063
Name: NM_001143998.2(SEC14L1):c.1948C>T (p.Pro650Ser)
Condition: not provided [RCV000907085]
Clinical Significance: benign
Last Evaluated: 07/15/2018
Review Status: criteria provided, single submitter
Related Genes: SEC14L1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_001144001.2:c.1846C>T
NM_001039573.3:c.1948C>T
NM_001143998.2:c.1948C>T
NM_001143999.2:c.1948C>T
NM_001204408.2:c.1948C>T
NM_001204410.2:c.1948C>T
NM_003003.4:c.1948C>T
NG_050640.1:g.129756C>T
NG_050640.2:g.129756C>T
NC_000017.11:g.77213398C>T
NC_000017.10:g.75209480C>T
NM_001039573.2:c.1948C>T
NP_001137473.2:p.Pro616Ser
NP_001034662.3:p.Pro650Ser
NP_001137470.2:p.Pro650Ser
NP_001137471.2:p.Pro650Ser
NP_001191337.2:p.Pro650Ser
NP_001191339.2:p.Pro650Ser
NP_002994.4:p.Pro650Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381777,213,398 - 77,213,398CLINVAR
GRCh371775,209,480 - 75,209,480CLINVAR
Cytogenetic Map1717q25.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15179340
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-05-26
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.