Variant #0000563934 (NC_000018.9:g.11689828_11689845dup, GNAL(NM_001142339.2):c.-61980_-61963dup)

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.11689828_11689845dup
DNA change (hg38) g.11689829_11689846dup
Published as GNAL(NM_182978.3):c.266_283dupCCAAGGAGCGCGAGGCGG (p.A89_A94dup), GNAL(NM_182978.4):c.266_283dupCCAAGGAGCGCGAGGCGG (p.A89_A94dup)
ISCN -
DB-ID GNAL_000015 See all 2 reported entries
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_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.-61980_-61963dup r.(?) p.(=)
CHMP1B NM_020412.4 ?/. - c.-161683_-161666dup r.(?) p.(=)
MPPE1 NM_023075.5 ?/. - c.*194614_*194631dup r.(=) p.(=)