Variant #0000000929 (NC_000006.12:g.152416940G>C, SYNE1(NM_182961.3):c.5497C>G)

Individual ID 00000188
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.152416940G>C
Published as L1833V
Reference Shafina-Nadiawati Abdul et al. (2017)
DB-ID SYNE1_000002
dbSNP ID rs1194139877
Frequency 1/9
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
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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 +/. 41 c.5497C>G - r.(?) p.(Leu1833Val) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000203 DNA PCR;SEQ;Western SYNE1 9 Nuur Athirah Binti Mohd Daud