Variant #0000089450 (NC_000023.10:g.70289817_70289821del, NM_013346.3:c.-1658_-1654del (SNX12))

Individual ID 00058821
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.70289817_70289821del
DNA change (hg38) g.71069967_71069971del
Published as delGAAAA
ISCN -
DB-ID SNX12_000002
Variant remarks -
Reference PubMed: Kumar 2016, Journal: Kumar 2016
ClinVar ID -
dbSNP ID rs201834417
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Thuong Ha
Database submission license No license selected
Created by Thuong Ha
Date created 2016-02-05 05:59:11 +01:00 (CET)
Date last edited 2020-07-20 14:41:21 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SNX12 NM_013346.3 -?/. - c.-1658_-1654del r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000058785 DNA SEQ-NG ThuongHa - - 33 Thuong Ha


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