Variant #0000515121 (NC_000002.11:g.233660846G>A, KCNJ13(NM_002242.4):c.-19708C>T)

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.233660846G>A
DNA change (hg38) g.232796136G>A
Published as GIGYF2(NM_001103147.1):c.1617G>A (p.E539=), GIGYF2(NM_001103147.2):c.1617G>A (p.E539=)
ISCN -
DB-ID GIGYF2_000033 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) 0.06986 View details
Owner VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GIGYF2 NM_001103146.1 -?/. - c.1554G>A r.(?) p.(Glu518=)
KCNJ13 NM_002242.4 -?/. - c.-19708C>T r.(?) p.(=)