Variant #0000000937 (NC_000006.12:g.152224547G>A, NM_182961.3:c.21469C>T (SYNE1))

Individual ID 00000189
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.152224547G>A
Published as R7157C
Reference Shafina-Nadiawati Abdul et al. (2017)dbSNP
DB-ID SYNE1_000010
dbSNP ID rs757688642
Frequency 1
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-11-25 15:00:32 +08:00 (CST)
Date last edited 2021-08-23 15:28:05 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
SYNE1 NM_182961.3 ?/. 116 c.21469C>T - r.(?) p.(Arg7157Cys) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000204 DNA PCR;SEQ;Western SYNE1 1 Nuur Athirah Binti Mohd Daud