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Variant : CV83875 (NM_198270.3(NHS):c.3619C>T (p.Arg1207Cys)) Homo sapiens

Symbol: CV83875
Name: NM_198270.3(NHS):c.3619C>T (p.Arg1207Cys)
Condition: Malignant melanoma [RCV000063956]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: NHS  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NM_198270.3:c.3619C>T
NC_000023.11:g.17727788C>T
NC_000023.10:g.17745908C>T
NM_198270.2:c.3619C>T
NP_938011.1:p.Arg1207Cys
NM_001136024.3:c.3151C>T
NG_011553.2:g.357369C>T
NM_001136024.2:c.3151C>T
NG_011553.1:g.357366C>T
NP_001129496.1:p.Arg1051Cys
NC_000023.9:g.17655829C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,727,788 - 17,727,788CLINVAR
GRCh37X17,745,908 - 17,745,908CLINVAR
Build 36X17,655,829 - 17,655,829CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8628731
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.