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Variant : CV369984 (NM_000722.4(CACNA2D1):c.489C>T (p.His163=)) Homo sapiens

Symbol: CV369984
Name: NM_000722.4(CACNA2D1):c.489C>T (p.His163=)
Condition: not specified [RCV000429827]
Clinical Significance: likely benign
Last Evaluated: 11/28/2016
Review Status: criteria provided, single submitter
Related Genes: CACNA2D1  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): LRG_437:g.331635C>T
NG_009358.2:g.331635C>T
NC_000007.14:g.82117081G>A
NC_000007.13:g.81746397G>A
NM_000722.2:c.489C>T
NP_000713.2:p.His163=
LRG_437t1:c.489C>T
NM_000722.4:c.489C>T
NM_001302890.2:c.489C>T
NM_001366867.1:c.489C>T
NP_001289819.1:p.His163=
NP_001353796.1:p.His163=
Position
Human AssemblyChrPosition (strand)Source
GRCh38782,117,081 - 82,117,081CLINVAR
GRCh37781,746,397 - 81,746,397CLINVAR
Cytogenetic Map77q21.11CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12839982
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-05
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.