Variant #0000324415 (NC_000016.9:g.1402117G>C, NM_032520.4:c.67G>C (GNPTG))

Chromosome 16
Allele Unknown
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.1402117G>C
DNA change (hg38) g.1352116G>C
Published as GNPTG(NM_032520.4):c.67G>C (p.(Gly23Arg))
ISCN -
DB-ID GNPTG_000028
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) 0.00053 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Date created 2018-01-15 20:58:59 +01:00 (CET)
Date last edited 2020-08-06 14:59:34 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TSR3 NM_001001410.2 -?/. - c.-312C>G r.(?) p.(=)
BAIAP3 NM_001199096.1 -?/. - c.*3634G>C r.(=) p.(=)
GNPTG NM_032520.4 -?/. 2 c.67G>C r.(?) p.(Gly23Arg)


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