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Variant : CV88559 (NM_032818.2(ARHGEF39):c.892G>A (p.Gly298Arg)) Homo sapiens

Symbol: CV88559
Name: NM_032818.2(ARHGEF39):c.892G>A (p.Gly298Arg)
Condition: Malignant melanoma [RCV000068652]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: ARHGEF39   CCDC107   RMRP  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NM_032818.2:c.892G>A
NC_000009.12:g.35662523C>T
NC_000009.11:g.35662520C>T
NR_003051.1:c.1-u4506G>A
NR_003051.3:c.1-u4505G>A
NM_174923.1:c.852+d1336C>T
NM_174923.2:c.*316+d1020C>T
NM_001195201.1:c.*599+d1020C>T
NM_001195217.1:c.*720+d1020C>T
NM_001195200.1:c.*316+d1020C>T
NP_116207.2:p.Gly298Arg
NC_000009.10:g.35652520C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38935,662,523 - 35,662,523CLINVAR
GRCh37935,662,520 - 35,662,520CLINVAR
Build 36935,652,520 - 35,652,520CLINVAR
Cytogenetic Map99p13.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8633345
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.