Variant #0000288527 (NC_000018.9:g.11752564C>T, GNAL(NM_001142339.2):c.132C>T)

Chromosome 18
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.11752564C>T
DNA change (hg38) g.11752565C>T
Published as GNAL(NM_001142339.2):c.132C>T (p.R44=)
ISCN -
DB-ID GNAL_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0003 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GNAL NM_001142339.2 -?/. - c.132C>T r.(?) p.(Arg44=)
CHMP1B NM_020412.4 -?/. - c.-98947C>T r.(?) p.(=)
MPPE1 NM_023075.5 -?/. - c.*131880G>A r.(=) p.(=)