Variant #0000000086 (NC_000002.11:g.[218879593C>A;218879648_218879656delinsAAGGA])

Individual ID 00000070
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.[218879593C>A;218879648_218879656delinsAAGGA]
Marker/Name D2S1338
HGVS/Repeat g.218879582GGAA[18]GGCA[4]
Repeat GGAA[18]GGCA[4]
Published_as CE22-GGAA[18]GGCA[4]
Haplotype D2S1338-22[A-0-0-18-4]
dbSNP ID -
Reference vd Gaag, in press
DB-ID chr2_000052
Variant remarks -
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     
0000000085 DNA SEQ - 2 Johan den Dunnen