Variant #0000253761 (NC_000002.11:g.233599904A>C, KCNJ13(NM_002242.4):c.*32997T>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.233599904A>C
DNA change (hg38) g.232735194A>C
Published as GIGYF2(NM_001103147.1):c.-4A>C
ISCN -
DB-ID GIGYF2_000001
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) 0.34999 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GIGYF2 NM_001103146.1 -/. - c.-4A>C r.(?) p.(=)
KCNJ13 NM_002242.4 -/. - c.*32997T>G r.(=) p.(=)