Variant #0000607821 (NC_000002.11:g.233675960A>G, KCNJ13(NM_002242.4):c.-34822T>C)

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.233675960A>G
DNA change (hg38) g.232811250A>G
Published as GIGYF2(NM_015575.3):c.1905A>G (p.Q635=)
ISCN -
DB-ID GIGYF2_000048
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) 9.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GIGYF2 NM_001103146.1 -?/. - c.1905A>G r.(?) p.(Gln635=)
KCNJ13 NM_002242.4 -?/. - c.-34822T>C r.(?) p.(=)