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Variant : CV82647 (NM_001029991.1(METTL17):c.544C>T (p.Pro182Ser)) Homo sapiens

Symbol: CV82647
Name: NM_001029991.1(METTL17):c.544C>T (p.Pro182Ser)
Condition: Malignant melanoma [RCV000062727]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: METTL17  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NC_000014.7:g.20531132C>T
NM_022734.2:c.544C>T
NM_001029991.1:c.544C>T
NC_000014.9:g.20993133C>T
NC_000014.8:g.21461292C>T
NP_001025162.1:p.Pro182Ser
NP_073571.1:p.Pro182Ser
Position
Human AssemblyChrPosition (strand)Source
GRCh381420,993,133 - 20,993,133CLINVAR
GRCh371421,461,292 - 21,461,292CLINVAR
Build 361420,531,132 - 20,531,132CLINVAR
Cytogenetic Map1414q11.2CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8627503
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.