Variant #0000016975 (NC_000018.9:g.11864576dup, GNAL(NM_001142339.2):c.591dup)

Chromosome 18
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.11864576dup
DNA change (hg38) g.11864577dup
Published as -
ISCN -
DB-ID GNAL_000002
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Satya Vemula
Database submission license No license selected
Created by Satya Vemula
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GNAL NM_001142339.2 ?/? 8 c.591dup r.(?) p.(Arg198Thrfs*13)