Variant #0000668944 (NC_000008.10:g.61654746C>A, NM_017780.3:c.755C>A (CHD7))

Individual ID 00303641
Chromosome 8
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.61654746C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID CHD7_000413
Variant remarks -
Reference PubMed: Biard 2021
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Valerie Benoit
Database submission license No license selected
Created by Valerie Benoit
Date created 2020-06-24 11:14:56 +02:00 (CEST)
Date last edited 2022-11-24 10:00:10 +01:00 (CET)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHD7 NM_017780.3 +?/. 2 c.755C>A r.(?) p.(Ser252*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000305256 DNA SEQ - - CHD7 1 Valerie Benoit


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