Variant #0000000048 (NC_000002.11:g.[218879593_218879600del;218879644_218879651del])
| Individual ID |
00000048 |
| 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_218879600del;218879644_218879651del] |
| Marker/Name |
D2S1338 |
| HGVS/Repeat |
g.218879582GGAA[13]GGCA[6] |
| Repeat |
GGAA[13]GGCA[6] |
| Published_as |
CE19-GGAA[13]GGCA[6] |
| Haplotype |
D2S1338-19[C-0-0-13-6] |
| dbSNP ID |
- |
| Reference |
vd Gaag, in press |
| DB-ID |
chr2_000017 See all 2 reported entries |
| Variant remarks |
1/194 Bhutan/Nepal, 12/198 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
|
|