Variant #0000640992 (NC_000008.10:g.38287391_38287397del, NM_023110.2:c.165_171del (FGFR1))
Individual ID |
00284100 |
Chromosome |
8 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.38287391_38287397del |
DNA change (hg38) |
g.38429873_38429879del |
Published as |
- |
ISCN |
- |
DB-ID |
FGFR1_000240 |
Variant remarks |
- |
Reference |
MORL Deafness Variation Database, PubMed: Shaw 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Global Variome, with Curator vacancy |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2020-02-05 13:36:16 +01:00 (CET) |
Date last edited |
2020-06-23 19:04:33 +02:00 (CEST) |

Variant on transcripts
Screenings
|