Variant #0000000590 (NC_000002.11:g.1493439_1493454dup)

Individual ID 00000476
Chromosome 2
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.1493439_1493454dup
Marker/Name TPOX
HGVS/Repeat g.1493423AATG[12]
Repeat AATG[12]
Published_as CE12-TGAA[12]
Haplotype TPOX-12 [C-CG-G-12]
dbSNP ID -
Reference van der Gaag 2016
DB-ID chr2_000063
Variant remarks -
Genetic origin Germline
Frequency -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Pieter Klap
Database submission license No license selected
Created by Pieter Klap

Variant on transcripts

Stop! No entries in the database yet!


AscendingScreening ID     



Genes screened     

Variants found     

0000000475 DNA SEQ - 1 Pieter Klap