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
Date created 2016-07-23 18:31:14 +02:00 (CEST)
Date last edited N/A




Variant on transcripts

Stop! No entries in the database yet!



Screenings


AscendingScreening ID     

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Technique     

Genes screened     

Variants found     

Owner     
0000000475 DNA SEQ - 1 Pieter Klap