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
 |
No entries in the database yet! |
Screenings
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