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Variant : CV441020 (NM_004562.3(PRKN):c.727G>A (p.Asp243Asn)) Homo sapiens

Symbol: CV441020
Name: NM_004562.3(PRKN):c.727G>A (p.Asp243Asn)
Condition: not specified [RCV000517145]
Clinical Significance: uncertain significance
Last Evaluated: 09/13/2016
Review Status: criteria provided, single submitter
Related Genes: PRKN  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_013988.3:c.280G>A
NC_000006.11:g.162394341C>T
p.ASP243ASN
NC_000006.12:g.161973309C>T
NG_008289.2:g.759494G>A
NP_004553.2:p.Asp243Asn
NM_013987.3:c.643G>A
NM_004562.3:c.727G>A
NM_004562.2:c.727G>A
NP_054642.2:p.Asp215Asn
NP_054643.2:p.Asp94Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh386161,973,309 - 161,973,309CLINVAR
GRCh376162,394,341 - 162,394,341CLINVAR
Cytogenetic Map66q26CLINVAR
Trait Synonyms: AllHighlyPenetrant



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13504265
Created: 2018-01-16
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.