Variant #0000339131 (NC_000018.9:g.11753842G>T, GNAL(NM_001142339.2):c.291G>T)

Chromosome 18
Allele Unknown
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.11753842G>T
DNA change (hg38) g.11753843G>T
Published as -
ISCN -
DB-ID GNAL_000011
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) Variant not found in online data sets
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.291G>T r.(?) p.(Met97Ile)
CHMP1B NM_020412.4 ?/. - c.-97669G>T r.(?) p.(=)
MPPE1 NM_023075.5 ?/. - c.*130602C>A r.(=) p.(=)