Variant #0000688699 (NC_000002.11:g.233655484T>A, KCNJ13(NM_002242.4):c.-14346A>T)

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.233655484T>A
DNA change (hg38) -
Published as GIGYF2(NM_001103146.1):c.789T>A (p.D263E)
ISCN -
DB-ID GIGYF2_000052
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) 2.0E-5 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GIGYF2 NM_001103146.1 ?/. - c.789T>A r.(?) p.(Asp263Glu)
KCNJ13 NM_002242.4 ?/. - c.-14346A>T r.(?) p.(=)