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Variant : CV88003 (NM_177531.4(PKHD1L1):c.8377G>A (p.Glu2793Lys)) Homo sapiens

Symbol: CV88003
Name: NM_177531.4(PKHD1L1):c.8377G>A (p.Glu2793Lys)
Condition: Malignant melanoma [RCV000068095]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: PKHD1L1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NM_177531.4:c.8377G>A
NC_000008.11:g.109465209G>A
NC_000008.10:g.110477438G>A
NP_803875.2:p.Glu2793Lys
NC_000008.9:g.110546614G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh388109,465,209 - 109,465,209CLINVAR
GRCh378110,477,438 - 110,477,438CLINVAR
Build 368110,546,614 - 110,546,614CLINVAR
Cytogenetic Map88q23.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8632788
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2015-08-04
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.