Variant #0000726806 (NC_000018.9:g.11881049T>A, GNAL(NM_001142339.2):c.1061T>A)

Chromosome 18
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.11881049T>A
DNA change (hg38) -
Published as GNAL(NM_182978.3):c.1292T>A (p.V431E)
ISCN -
DB-ID GNAL_000021
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GNAL NM_001142339.2 +?/. - c.1061T>A r.(?) p.(Val354Glu)
CHMP1B NM_020412.4 +?/. - c.*28939T>A r.(=) p.(=)
MPPE1 NM_023075.5 +?/. - c.*3395A>T r.(=) p.(=)