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Variant : CV82632 (NM_001242786.1(BRF1):c.399G>A (p.Glu133=)) Homo sapiens

Symbol: CV82632
Name: NM_001242786.1(BRF1):c.399G>A (p.Glu133=)
Condition: Malignant melanoma [RCV000062712]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: BRF1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NC_000014.7:g.104766246C>T
NM_145685.2:c.132G>A
NM_001242786.1:c.399G>A
NG_029489.1:g.91714G>A
NC_000014.9:g.105228864C>T
NC_000014.8:g.105695201C>T
NP_001229715.1:p.Glu133=
NM_001519.3:c.744G>A
NM_001519.2:c.744G>A
NP_001510.2:p.Glu248=
NP_663718.1:p.Glu44=
Position
Human AssemblyChrPosition (strand)Source
GRCh3814105,228,864 - 105,228,864CLINVAR
GRCh3714105,695,201 - 105,695,201CLINVAR
Build 3614104,766,246 - 104,766,246CLINVAR
Cytogenetic Map1414q32.33CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8627488
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.