Variant #0000325832 (NC_000018.9:g.11886989del, GNAL(NM_001142339.2):c.*5855del)

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.11886989del
DNA change (hg38) g.11886990del
Published as MPPE1(NM_001242904.1):c.605del (p.(Asp202ValfsTer20))
ISCN -
DB-ID MPPE1_000002
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_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GNAL NM_001142339.2 ?/. - c.*5855del r.(?) p.(=)
CHMP1B NM_020412.4 ?/. - c.*34879del r.(?) p.(=)
MPPE1 NM_023075.5 ?/. - c.605del r.(?) p.(Asp202ValfsTer20)