Variant #0000548997 (NC_000012.11:g.65152952dup, NM_002076.3:c.109dup (GNS))

Chromosome 12
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.65152952dup
DNA change (hg38) g.64759172dup
Published as GNS(NM_002076.3):c.109dupG (p.V37Gfs*70)
ISCN -
DB-ID GNS_000027
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) Retrieve
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Date created 2019-07-18 18:22:55 +02:00 (CEST)
Date last edited 2020-07-02 16:54:52 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GNS NM_002076.3 +/. - c.109dup r.(?) p.(Val37GlyfsTer70)
TBC1D30 NM_015279.1 +/. - c.-65708dup r.(?) p.(=)


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