Variant #0000595122 (NC_000007.13:g.73450911G>T, NM_000501.2:c.160G>T (ELN))

Individual ID 00263436
Chromosome 7
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.73450911G>T
DNA change (hg38) g.74036581G>T
Published as -
ISCN -
DB-ID ELN_000134
Variant remarks -
Reference Yanagisawa 2019, submitted
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Hiromi Yanagisawa
Database submission license No license selected
Created by Hiromi Yanagisawa
Date created 2019-08-30 04:17:01 +02:00 (CEST)
Date last edited 2019-09-13 13:20:57 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ELN NM_000501.2 +/. - c.160G>T r.(?) p.(Gly54*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000264547 DNA SEQ - - ELN 1 Hiromi Yanagisawa


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