Variant #0000288322 (NC_000002.11:g.233656112G>A, KCNJ13(NM_002242.4):c.-14974C>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.233656112G>A
DNA change (hg38) g.232791402G>A
Published as GIGYF2(NM_001103147.1):c.1301G>A (p.R434Q)
ISCN -
DB-ID GIGYF2_000008
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.1238G>A r.(?) p.(Arg413Gln)
KCNJ13 NM_002242.4 -?/. - c.-14974C>T r.(?) p.(=)