Variant #0000283361 (NC_000002.11:g.233659553C>A, KCNJ13(NM_002242.4):c.-18415G>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.233659553C>A
DNA change (hg38) g.232794843C>A
Published as GIGYF2(NM_015575.3):c.1378C>A (p.P460T)
ISCN -
DB-ID GIGYF2_000009
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) 0.05439 View details
Owner VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GIGYF2 NM_001103146.1 -?/. - c.1378C>A r.(?) p.(Pro460Thr)
KCNJ13 NM_002242.4 -?/. - c.-18415G>T r.(?) p.(=)