Variant #0000908371 (NC_000012.11:g.65122797_65122798insAGAAT, NM_002076.3:c.1139_1140insTTCTA (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.65122797_65122798insAGAAT
DNA change (hg38) -
Published as -
ISCN -
DB-ID GNS_000035
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner MobiDetails
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by MobiDetails
Date created 2022-12-08 09:40:01 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GNS NM_002076.3 +/. - c.1139_1140insTTCTA r.(?) p.(Ile381SerfsTer8)


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