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Variant : CV86067 (NM_000720.3(CACNA1D):c.2241C>T (p.Ile747=)) Homo sapiens

Symbol: CV86067
Name: NM_000720.3(CACNA1D):c.2241C>T (p.Ile747=)
Condition: Malignant melanoma [RCV000066151]
Clinical Significance: not provided
Last Evaluated:
Review Status: no assertion provided|not classified by submitter
Related Genes: CACNA1D  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: literature only|not provided
HGVS Name(s): NM_000720.3:c.2241C>T
NG_032999.1:g.236911C>T
NC_000003.12:g.53726959C>T
NC_000003.11:g.53760986C>T
NM_000720.1:c.2241C>T
NM_000720.2:c.2241C>T
NP_000711.1:p.Ile747=
NM_001128839.2:c.2181C>T
NM_001128840.2:c.2181C>T
NM_001128839.1:c.2181C>T
NM_001128840.1:c.2181C>T
NP_001122312.1:p.Ile727=
NP_001122311.1:p.Ile727=
NC_000003.10:g.53736026C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,726,959 - 53,726,959CLINVAR
GRCh37353,760,986 - 53,760,986CLINVAR
Build 36353,736,026 - 53,736,026CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: Malignant melanoma, somatic



References - curated

Additional Information

 
RGD Object Information
RGD ID: 8630911
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.