Variant #0000638726 (NC_000001.10:g.55464998G>A, NM_057176.2:c.139G>A (BSND))

Individual ID 00281834
Chromosome 1
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.55464998G>A
DNA change (hg38) g.54999325G>A
Published as -
ISCN -
DB-ID BSND_000019 See all 3 reported entries
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Estévez 2001
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0001 View details
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2020-02-05 13:36:16 +01:00 (CET)
Date last edited 2020-11-29 11:25:31 +01:00 (CET)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BSND NM_057176.2 +/+ 1 c.139G>A r.(?) p.(Gly47Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000282984 DNA ? - - BSND 1 Global Variome, with Curator vacancy


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