Variant #0000288528 (NC_000018.9:g.11753911C>T, GNAL(NM_001142339.2):c.360C>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.11753911C>T
DNA change (hg38) g.11753912C>T
Published as GNAL(NM_182978.3):c.591C>T (p.S197=)
ISCN -
DB-ID GNAL_000007
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) 0.00109 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.360C>T r.(?) p.(Ser120=)
CHMP1B NM_020412.4 -?/. - c.-97600C>T r.(?) p.(=)
MPPE1 NM_023075.5 -?/. - c.*130533G>A r.(=) p.(=)