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Variant : CV87442 (NM_015831.2(ACHE):c.423C>T (p.Ser141=)) Homo sapiens

Symbol: CV87442
Name: NM_015831.2(ACHE):c.423C>T (p.Ser141=)
Condition: Malignant melanoma [RCV000067533]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: ACHE   UFSP1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NM_015831.2:c.423C>T
NG_007474.1:g.7111C>T
NC_000007.14:g.100893810G>A
NC_000007.13:g.100491431G>A
NM_001015072.3:c.-447-u4092C>T
XM_001718072.1:c.*201+d55G>A
NP_056646.1:p.Ser141=
NP_000656.1:p.Ser141=
NC_000007.12:g.100329367G>A
NM_000665.4:c.423C>T
NM_000665.3:c.423C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh387100,893,810 - 100,893,810CLINVAR
GRCh377100,491,431 - 100,491,431CLINVAR
Build 367100,329,367 - 100,329,367CLINVAR
Cytogenetic Map77q22.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
CRRD Object Information
CRRD ID: 8632236
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.