Variant #0000000052 (NC_000002.11:g.[218879593C>A;218879648_218879660delinsA])

Individual ID 00000052
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_218879660delinsA]
Marker/Name D2S1338
HGVS/Repeat g.218879582GGAA[17]GGCA[3]
Repeat GGAA[17]GGCA[3]
Published_as CE20-GGAA[17]GGCA[3]
Haplotype D2S1338-20[A-0-0-17-3]
dbSNP ID -
Reference vd Gaag, in press
DB-ID chr2_000020
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

Stop! No entries in the database yet!


AscendingScreening ID     



Genes screened     

Variants found     

0000000051 DNA SEQ - 2 Johan den Dunnen