Variant #0000604930 (NC_000001.10:g.160012023G>T, KCNJ10(NM_002241.4):c.300C>A)

Chromosome 1
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.160012023G>T
DNA change (hg38) g.160042233G>T
Published as KCNJ10(NM_002241.4):c.300C>A (p.D100E), KCNJ10(NM_002241.5):c.300C>A (p.D100E)
ISCN -
DB-ID KCNJ10_000008 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00017 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
KCNJ10 NM_002241.4 -?/. - c.300C>A r.(?) p.(Asp100Glu)