Genomic variant #0000465917

Individual ID 00219582
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.152589237C>T
DNA change (hg38) g.152268102C>T
Published as -
ISCN -
DB-ID SYNE1_000509
Variant remarks -
Reference PubMed: Nallamilli 2018
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Madhuri Hegde
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SYNE1 NM_182961.3 ?/. 99 c.18769G>A r.(?) p.(Glu6257Lys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000220653 DNA SEQ;SEQ-NG - targeted gene panel - 3 Madhuri Hegde