Variant #0000832234 (NC_000023.10:g.85302515delC, NM_000390.2:c.22delG (CHM))

Individual ID 00398392
Chromosome X
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.85302515delC
DNA change (hg38) -
Published as c.22delG
ISCN -
DB-ID CHM_000632 See all 4 reported entries
Variant remarks -
Reference PubMed: Dan 2020
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2022-01-05 04:00:26 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

P-domain     
CHM NM_000390.2 +?/. 1 c.22delG r.(?) p.(Glu8Serfs*4) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000399638 DNA SEQ-NG blood - CACNA2D4, CHM, NHLRC2, USH2A 5 LOVD


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