Variant #0000695768 (NC_000012.11:g.40619479T>A, LRRK2(NM_198578.3):c.237+37T>A)

Chromosome 12
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.40619479T>A
DNA change (hg38) g.40225677T>A
Published as -
ISCN -
DB-ID LRRK2_000048
Variant remarks -
Reference PubMed: Rubio 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 3/27822
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Justin Rubio
Database submission license No license selected
Created by Justin Rubio
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LRRK2 NM_198578.3 ?/. ? c.237+37T>A r.(?) p.(=)



Screenings

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