Variant #0000000060 (NC_000002.11:g.[218879593_218879604del;218879644A>C])

Individual ID 00000060
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.[218879593_218879604del;218879644A>C]
Marker/Name D2S1338
HGVS/Repeat g.218879582GGAA[12]GGCA[8]
Repeat GGAA[12]GGCA[8]
Published_as CE20-GGAA[12]GGCA[8]
Haplotype D2S1338-20[C-0-0-12-8]
dbSNP ID -
Reference vd Gaag, in press
DB-ID chr2_000027
Variant remarks 1/202 Netherlands, 1/198 pygmie chromosomes
Genetic origin Germline
Frequency -
Average frequency (gnomAD v.2.1.1) Genomic location of variant could not be determined
Owner Johan den Dunnen
Database submission license No license selected
Created by Johan den Dunnen
Date created 2016-06-27 22:07:36 +02:00 (CEST)
Date last edited N/A




Variant on transcripts

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Screenings


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Owner     
0000000059 DNA SEQ - 1 Johan den Dunnen