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Variant : CV747914 (NM_016589.4(TIMMDC1):c.481A>G (p.Asn161Asp)) Homo sapiens

Symbol: CV747914
Name: NM_016589.4(TIMMDC1):c.481A>G (p.Asn161Asp)
Condition: not provided [RCV000926594]
Clinical Significance: likely benign
Last Evaluated: 09/11/2018
Review Status: criteria provided, single submitter
Related Genes: TIMMDC1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_016589.4:c.481A>G
NC_000003.12:g.119503985A>G
NC_000003.11:g.119222832A>G
NM_016589.3:c.481A>G
NP_057673.2:p.Asn161Asp
Position
Human AssemblyChrPosition (strand)Source
GRCh383119,503,985 - 119,503,985CLINVAR
GRCh373119,222,832 - 119,222,832CLINVAR
Cytogenetic Map33q13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 15165317
Created: 2020-01-07
Species: Homo sapiens
Last Modified: 2020-02-20
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.