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Variant : CV80772 (NM_000720.3(CACNA1D):c.340C>T (p.Pro114Ser)) Homo sapiens

Symbol: CV80772
Name: NM_000720.3(CACNA1D):c.340C>T (p.Pro114Ser)
Condition: Malignant melanoma [RCV000060849]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: CACNA1D  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant
Evidence: literature only|not provided
HGVS Name(s): NM_000720.3:c.340C>T
NG_032999.1:g.7376C>T
NC_000003.12:g.53497424C>T
NC_000003.11:g.53531451C>T
NM_000720.2:c.340C>T
NP_000711.1:p.Pro114Ser
NM_001128839.2:c.340C>T
NM_001128840.2:c.340C>T
NM_001128839.1:c.340C>T
NM_001128840.1:c.340C>T
NP_001122312.1:p.Pro114Ser
NP_001122311.1:p.Pro114Ser
NC_000003.10:g.53506491C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,497,424 - 53,497,424CLINVAR
GRCh37353,531,451 - 53,531,451CLINVAR
Build 36353,506,491 - 53,506,491CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8625648
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.