Variant #0000763735 (NC_000003.11:g.39307832T>C, CX3CR1(NM_001337.3):c.169A>G)

Individual ID 00362002
Chromosome 3
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.39307832T>C
DNA change (hg38) g.39266341T>C
Published as 265T>C
ISCN -
DB-ID CX3CR1_000001
Variant remarks -
Reference PubMed: Duvvari 2016
ClinVar ID -
dbSNP ID rs199811198
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00277 View details
Owner -
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CX3CR1 NM_001337.3 ?/. - c.169A>G r.(?) p.(Thr57Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000363230 DNA SEQ;SEQ-NG - WES - 6 -