Variant #0000518237 (NC_000003.11:g.148727068del, GYG1(NM_004130.3):c.487del)

Chromosome 3
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.148727068del
DNA change (hg38) g.149009281del
Published as GYG1(NM_004130.3):c.487delG (p.D163Tfs*5)
ISCN -
DB-ID GYG1_000006 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_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GYG1 NM_004130.3 +/. - c.487del r.(?) p.(Asp163ThrfsTer5)