Variant #0000465799 (NC_000006.11:g.152832210T>C, NM_182961.3:c.338A>G (SYNE1))

Individual ID 00221633
Chromosome 6
Allele Parent #1
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.152832210T>C
DNA change (hg38) g.152511075T>C
Published as -
ISCN -
DB-ID SYNE1_000844
Variant remarks -
Reference PubMed: Nallamilli 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Madhuri Hegde
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-02-06 14:15:12 +01:00 (CET)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SYNE1 NM_182961.3 ?/. 7 c.338A>G r.(?) p.(Asp113Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000222704 DNA SEQ;SEQ-NG - targeted gene panel - 1 Madhuri Hegde


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