Variant #0000638843 (NC_000001.10:g.160011799C>T, KCNJ10(NM_002241.4):c.524G>A)

Individual ID 00281951
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.160011799C>T
DNA change (hg38) g.160042009C>T
Published as -
ISCN -
DB-ID KCNJ10_000023
Variant remarks -
Reference MORL Deafness Variation Database, PubMed: Reichold 2010
ClinVar ID -
dbSNP ID -
Origin SUMMARY record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Global Variome, with Curator vacancy
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNJ10 NM_002241.4 +/+ 2 c.524G>A r.(?) p.(Arg175Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000283101 DNA ? - - KCNJ10 1 Global Variome, with Curator vacancy