Variant #0000515116 (NC_000002.11:g.233633500G>A, KCNJ13(NM_002242.4):c.484C>T)

Chromosome 2
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.233633500G>A
DNA change (hg38) g.232768790G>A
Published as KCNJ13(NM_002242.4):c.484C>T (p.R162W)
ISCN -
DB-ID KCNJ13_000002 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 (large NGS studies) 0 View details
Owner VKGL-NL_AMC
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GIGYF2 NM_001103146.1 +?/. - c.532+7354G>A r.(=) p.(=)
KCNJ13 NM_002242.4 +?/. - c.484C>T r.(?) p.(Arg162Trp)