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Variant : CV229128 (NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=)) Homo sapiens

Symbol: CV229128
Name: NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=)
Condition: not specified [RCV000213786]
Clinical Significance: likely benign
Last Evaluated: 01/18/2018
Review Status: criteria provided, multiple submitters, no conflicts|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.313435C>T
NC_000003.12:g.53803483C>T
NC_000003.11:g.53837510C>T
NM_000720.2:c.5556C>T
p.Gly1852Gly
NP_000711.1:p.Gly1852=
NM_001128839.3:c.5424C>T
NM_001128840.3:c.5496C>T
NM_000720.4:c.5556C>T
NM_000720.2:c.5556C>T
NC_000003.11:g.53837510C>T
NP_001122311.1:p.Gly1808=
NP_001122312.1:p.Gly1832=
Position
Human AssemblyChrPosition (strand)Source
GRCh38353,803,483 - 53,803,483CLINVAR
GRCh37353,837,510 - 53,837,510CLINVAR
Cytogenetic Map33p21.1CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11088604
Created: 2016-06-07
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.