Variant #0000253661 (NC_000002.11:g.233712244A>C, KCNJ13(NM_002242.4):c.-71106T>G)

Chromosome 2
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.233712244A>C
DNA change (hg38) g.232847534A>C
Published as GIGYF2(NM_015575.3):c.3647A>C (p.Q1216P)
ISCN -
DB-ID GIGYF2_000023
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.3647A>C r.(?) p.(Gln1216Pro)
KCNJ13 NM_002242.4 -/. - c.-71106T>G r.(?) p.(=)