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)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
SHOX2 NM_003030.4 +/. - c.230G>A r.(?) p.(Gly77Asp)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000235434 DNA SEQ Blood - SHOX2 1 Sandra Hoffmann


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