Variant #0000515124 (NC_000002.11:g.233697779_233697781dup, KCNJ13(NM_002242.4):c.-56628_-56626dup)

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.233697779_233697781dup
DNA change (hg38) g.232833069_232833071dup
Published as GIGYF2(NM_001103147.1):c.2805_2807dupGCA (p.Q938dup)
ISCN -
DB-ID GIGYF2_000036
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) 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.2742_2744dup r.(?) p.(Gln917dup)
KCNJ13 NM_002242.4 ?/. - c.-56628_-56626dup r.(?) p.(=)