Variant #0000337032 (NC_000018.9:g.11752943C>A, GNAL(NM_001142339.2):c.218+19C>A)

Chromosome 18
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.11752943C>A
DNA change (hg38) g.11752944C>A
Published as -
ISCN -
DB-ID GNAL_000010
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) 0.28097 View details
Owner VKGL-NL_Nijmegen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Nijmegen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GNAL NM_001142339.2 -/. - c.218+19C>A r.(=) p.(=)
CHMP1B NM_020412.4 -/. - c.-98568C>A r.(?) p.(=)
MPPE1 NM_023075.5 -/. - c.*131501G>T r.(=) p.(=)