Variant #0000288329 (NC_000002.11:g.233621014C>T, KCNJ13(NM_002242.4):c.*11887G>A)

Chromosome 2
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.233621014C>T
DNA change (hg38) g.232756304C>T
Published as GIGYF2(NM_015575.3):c.349C>T (p.P117S)
ISCN -
DB-ID GIGYF2_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 5.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GIGYF2 NM_001103146.1 ?/. - c.349C>T r.(?) p.(Pro117Ser)
KCNJ13 NM_002242.4 ?/. - c.*11887G>A r.(=) p.(=)