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Variant : CV80279 (NM_014568.1(GALNT5):c.1042C>T (p.Pro348Ser)) Homo sapiens

Symbol: CV80279
Name: NM_014568.1(GALNT5):c.1042C>T (p.Pro348Ser)
Condition: Malignant melanoma [RCV000060355]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: GALNT5  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NM_014568.1:c.1042C>T
NC_000002.12:g.157259124C>T
NC_000002.11:g.158115636C>T
NP_055383.1:p.Pro348Ser
NC_000002.10:g.157823882C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh382157,259,124 - 157,259,124CLINVAR
GRCh372158,115,636 - 158,115,636CLINVAR
Build 362157,823,882 - 157,823,882CLINVAR
Cytogenetic Map22q24.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8625160
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.