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Variant : CV576911 (NM_004562.3(PRKN):c.1244C>A (p.Thr415Asn)) Homo sapiens

Symbol: CV576911
Name: NM_004562.3(PRKN):c.1244C>A (p.Thr415Asn)
Condition: not provided [RCV000712859]
Clinical Significance: likely pathogenic
Last Evaluated: 09/01/2017
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): NG_008289.2:g.1372674C>A
NC_000006.12:g.161360129G>T
NC_000006.11:g.161781161G>T
NP_004553.2:p.Thr415Asn
NM_013987.3:c.1160C>A
NM_004562.3:c.1244C>A
NM_013988.3:c.797C>A
NM_004562.2:c.1244C>A
NP_054643.2:p.Thr266Asn
NP_054642.2:p.Thr387Asn
Position
Human AssemblyChrPosition (strand)Source
GRCh386161,360,129 - 161,360,129CLINVAR
GRCh376161,781,161 - 161,781,161CLINVAR
Cytogenetic Map66q26CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13811130
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-12-03
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.