Variant #0000478191 (NC_000003.11:g.157823584C>T, NM_003030.4:c.230G>A (SHOX2))
Individual ID |
00234332 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.157823584C>T |
DNA change (hg38) |
g.158105795C>T |
Published as |
- |
ISCN |
- |
DB-ID |
SHOX2_000005 |
Variant remarks |
- |
Reference |
PubMed: Hoffmann 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
1/450 patients |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Sandra Hoffmann |
Database submission license |
No license selected |
Created by |
Sandra Hoffmann |
Date created |
2019-05-08 13:13:03 +02:00 (CEST) |
Date last edited |
2020-06-12 11:51:54 +02:00 (CEST) |

Variant on transcripts
Screenings
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