Variant #0000369788 (NC_000016.9:g.1411872G>C, NC_000016.9(NM_032520.4):c.234-1G>C (GNPTG))

Individual ID 00165089
Chromosome 16
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.1411872G>C
DNA change (hg38) g.1361871G>C
Published as -
ISCN -
DB-ID GNPTG_000041
Variant remarks -
Reference Journal: Gao 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Renata Voltolini Velho
Database submission license No license selected
Created by Renata Voltolini Velho
Date created 2018-06-21 15:50:10 +02:00 (CEST)
Date last edited 2019-01-28 16:05:20 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GNPTG NM_032520.4 +/+ 4i c.234-1G>C r.233_234ins233+1_233+74 p.Tyr79Thrfs*24



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165961 DNA SEQ Blood - GNPTAB, GNPTG 2 Renata Voltolini Velho


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