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Variant : CV91170 (NM_001012759.1(CTU2):c.804C>T (p.Cys268=)) Homo sapiens

Symbol: CV91170
Name: NM_001012759.1(CTU2):c.804C>T (p.Cys268=)
Condition: Malignant melanoma [RCV000071268]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: CTU2   MIR4722   PIEZO1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NC_000016.8:g.87307287C>T
NM_001012759.1:c.804C>T
NM_001012762.1:c.804C>T
NC_000016.10:g.88713378C>T
NC_000016.9:g.88779786C>T
XM_001714598.1:c.*267+d1960G>A
NM_001142864.2:c.*266+d1961G>A
NM_001142864.2:c.*267+d1960G>A
NR_039873.1:c.60+d2900G>A
NP_001012777.1:p.Cys268=
NP_001012780.1:p.Cys268=
Position
Human AssemblyChrPosition (strand)Source
GRCh381688,713,378 - 88,713,378CLINVAR
GRCh371688,779,786 - 88,779,786CLINVAR
Build 361687,307,287 - 87,307,287CLINVAR
Cytogenetic Map1616q24.3CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8635947
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.