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Variant : CV700338 (NM_177531.6(PKHD1L1):c.6841C>T (p.Leu2281=)) Homo sapiens

Symbol: CV700338
Name: NM_177531.6(PKHD1L1):c.6841C>T (p.Leu2281=)
Condition: not provided [RCV000956659]
Clinical Significance: benign
Last Evaluated: 04/10/2018
Review Status: criteria provided, single submitter
Related Genes: PKHD1L1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NM_177531.6:c.6841C>T
NC_000008.11:g.109454819C>T
NC_000008.10:g.110467048C>T
NM_177531.4:c.6841C>T
NP_803875.2:p.Leu2281=
Position
Human AssemblyChrPosition (strand)Source
GRCh388109,454,819 - 109,454,819CLINVAR
GRCh378110,467,048 - 110,467,048CLINVAR
Cytogenetic Map88q23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15198125
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-17
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.