Variant #0000000075 (NC_000002.11:g.[218879648C>A;218879652C>A])

Individual ID 00000076
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.[218879648C>A;218879652C>A]
Marker/Name D2S1338
HGVS/Repeat g.218879582GGAA[2]GGAC[1]GGAA[15]GGCA[5]
Repeat GGAA[2]GGAC[1]GGAA[15]GGCA[5]
Published_as CE23-GGAA[2]GGAC[1]GGAA[15]GGCA[5]
Haplotype D2S1338-23[C-2-1-15-5]
dbSNP ID -
Reference vd Gaag, in press
DB-ID chr2_000042
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




Variant on transcripts

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Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000000074 DNA SEQ - 1 Johan den Dunnen