Variant #0000288325 (NC_000002.11:g.233704627G>T, KCNJ13(NM_002242.4):c.-63489C>A)

Chromosome 2
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.233704627G>T
DNA change (hg38) g.232839917G>T
Published as GIGYF2(NM_001103147.1):c.2898G>T (p.S966=), GIGYF2(NM_015575.3):c.2835G>T (p.S945=)
ISCN -
DB-ID GIGYF2_000012 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 0
Methylation -
Average frequency (large NGS studies) 0.00296 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.2835G>T r.(?) p.(Ser945=)
KCNJ13 NM_002242.4 -?/. - c.-63489C>A r.(?) p.(=)