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Variant : CV88001 (NM_177531.4(PKHD1L1):c.7162C>T (p.Leu2388Phe)) Homo sapiens

Symbol: CV88001
Name: NM_177531.4(PKHD1L1):c.7162C>T (p.Leu2388Phe)
Condition: Malignant melanoma [RCV000068093]
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.7162C>T
NC_000008.11:g.109459752C>T
NC_000008.10:g.110471981C>T
NP_803875.2:p.Leu2388Phe
NC_000008.9:g.110541157C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh388109,459,752 - 109,459,752CLINVAR
GRCh378110,471,981 - 110,471,981CLINVAR
Build 368110,541,157 - 110,541,157CLINVAR
Cytogenetic Map88q23.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8632786
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.