Variant #0000288334 (NC_000002.11:g.233712226_233712227insGCA, KCNJ13(NM_002242.4):c.-71089_-71088insTGC)

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.233712226_233712227insGCA
DNA change (hg38) g.232847516_232847517insGCA
Published as GIGYF2(NM_001103147.1):c.3693_3695delACAinsGCAACA (p.Q1237dup)
ISCN -
DB-ID GIGYF2_000020
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GIGYF2 NM_001103146.1 ?/. - c.3629_3630insGCA r.(?) p.(Gln1216dup)
KCNJ13 NM_002242.4 ?/. - c.-71089_-71088insTGC r.(?) p.(=)