Variant #0000281093 (NC_000018.9:g.11824960T>C, GNAL(NM_001142339.2):c.437T>C)

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.11824960T>C
DNA change (hg38) g.11824961T>C
Published as GNAL(NM_182978.4):c.668T>C (p.V223A)
ISCN -
DB-ID GNAL_000008
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_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GNAL NM_001142339.2 ?/. - c.437T>C r.(?) p.(Val146Ala)
CHMP1B NM_020412.4 ?/. - c.-26551T>C r.(?) p.(=)
MPPE1 NM_023075.5 ?/. - c.*59484A>G r.(=) p.(=)