Variant #0000377885 (NC_000023.10:g.(85282562_85302487)_(85302566_?)del, NM_000390.2:c.-30_(49+1_50-1){0} (CHM))

Individual ID 00167867
Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.(85282562_85302487)_(85302566_?)del
DNA change (hg38) g.(86027558_86047483)_(85302566_?)del
Published as 1-?_79+?del
ISCN -
DB-ID CHM_000095 See all 6 reported entries
Variant remarks heterozygous
Reference PubMed: Aleman TS 2017
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner David Baux
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by David Baux
Date created 2017-02-28 17:14:20 +01:00 (CET)
Date last edited 2021-01-26 15:20:21 +01:00 (CET)
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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_1i c.-30_(49+1_50-1){0} r.0 p.0 -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000168746 DNA SEQ - - - 1 David Baux


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