Variant #0000369816 (NC_000016.9:g.1412097G>A, NM_032520.4:c.376G>A (GNPTG))

Chromosome 16
Allele Unknown
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.1412097G>A
DNA change (hg38) g.1362096G>A
Published as -
ISCN -
DB-ID GNPTG_000055
Variant remarks -
Reference Journal: Barea 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Renata Voltolini Velho
Database submission license No license selected
Created by Renata Voltolini Velho
Date created 2018-06-26 15:31:30 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GNPTG NM_032520.4 +/+ 6 c.376G>A r.(?) p.(Gly126Ser)


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