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

Variant : CV91429 (NM_001114091.2(CDC27):c.718A>C (p.Ile240Leu)) Homo sapiens

Symbol: CV91429
Name: NM_001114091.2(CDC27):c.718A>C (p.Ile240Leu)
Condition: Malignant melanoma [RCV000071527]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: CDC27  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000017.11:g.47157037T>G
NC_000017.10:g.45234403T>G
XR_039714.1:c.1386+d1586A>C
NM_001256.2:c.718A>C
NP_001107563.1:p.Ile240Leu
NP_001247.3:p.Ile240Leu
NM_001114091.2:c.718A>C
NM_001256.4:c.718A>C
NM_001256.3:c.718A>C
NM_001114091.1:c.718A>C
NC_000017.9:g.42589402T>G
Position
Human AssemblyChrPosition (strand)Source
GRCh381747,157,037 - 47,157,037CLINVAR
GRCh371745,234,403 - 45,234,403CLINVAR
Build 361742,589,402 - 42,589,402CLINVAR
Cytogenetic Map1717q21.32CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8636205
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.