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Variant : CV711233 (NM_177531.6(PKHD1L1):c.7715G>A (p.Arg2572Gln)) Homo sapiens

Symbol: CV711233
Name: NM_177531.6(PKHD1L1):c.7715G>A (p.Arg2572Gln)
Condition: not provided [RCV000961894]
Clinical Significance: benign
Last Evaluated: 04/10/2018
Review Status: criteria provided, single submitter
Related Genes: PKHD1L1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_177531.6:c.7715G>A
NC_000008.11:g.109464547G>A
NC_000008.10:g.110476776G>A
NM_177531.4:c.7715G>A
NP_803875.2:p.Arg2572Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh388109,464,547 - 109,464,547CLINVAR
GRCh378110,476,776 - 110,476,776CLINVAR
Cytogenetic Map88q23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15115691
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-03-24
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.