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Variant : CV496309 (NM_001128840.3(CACNA1D):c.5841G>A (p.Thr1947=)) Homo sapiens

Symbol: CV496309
Name: NM_001128840.3(CACNA1D):c.5841G>A (p.Thr1947=)
Condition: not specified [RCV000613141]
Clinical Significance: likely benign
Last Evaluated: 06/22/2017
Review Status: criteria provided, single submitter
Related Genes: CACNA1D  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NG_032999.1:g.318692G>A
NC_000003.12:g.53808740G>A
NC_000003.11:g.53842767G>A
NM_000720.2:c.5901G>A
p.Thr1967Thr
NP_000711.1:p.Thr1967=
NM_001128839.3:c.5769G>A
NM_001128840.3:c.5841G>A
NP_001122312.1:p.Thr1947=
NM_000720.4:c.5901G>A
NP_001122311.1:p.Thr1923=
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,808,740 - 53,808,740CLINVAR
GRCh37353,842,767 - 53,842,767CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13539336
Created: 2018-05-08
Species: Homo sapiens
Last Modified: 2019-11-12
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.