Variant #0000710921 (NC_000004.11:g.(5721101_5731033)_(5758090_5785278)del, NC_000004.11(NM_153717.2):c.(300+1_301-1)_(1563+1_1564-1)del (EVC))
Individual ID |
00326023 |
Chromosome |
4 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(5721101_5731033)_(5758090_5785278)del |
DNA change (hg38) |
g.(5719374_5729306)_(5756363_5783551)del |
Published as |
301-?_1563+?del, hg18 5782048_5804013del |
ISCN |
- |
DB-ID |
EVC_000097 |
Variant remarks |
- |
Reference |
PubMed: D'Asdia 2013 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-01-06 18:59:52 +01:00 (CET) |
Date last edited |
2021-01-06 19:11:51 +01:00 (CET) |

Variant on transcripts
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