Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV88000 (NM_177531.4(PKHD1L1):c.6715A>T (p.Ile2239Phe)) Homo sapiens

Symbol: CV88000
Name: NM_177531.4(PKHD1L1):c.6715A>T (p.Ile2239Phe)
Condition: Malignant melanoma [RCV000068092]
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.6715A>T
NC_000008.11:g.109454217A>T
NC_000008.10:g.110466446A>T
NP_803875.2:p.Ile2239Phe
NC_000008.9:g.110535622A>T
Position
Human AssemblyChrPosition (strand)Source
GRCh388109,454,217 - 109,454,217CLINVAR
GRCh378110,466,446 - 110,466,446CLINVAR
Build 368110,535,622 - 110,535,622CLINVAR
Cytogenetic Map88q23.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8632785
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2015-08-04
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.