Variant #0000288326 (NC_000002.11:g.233709083C>G, KCNJ13(NM_002242.4):c.-67945G>C)

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.233709083C>G
DNA change (hg38) g.232844373C>G
Published as GIGYF2(NM_015575.3):c.3104C>G (p.S1035C)
ISCN -
DB-ID GIGYF2_000014
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) 0.00093 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.3104C>G r.(?) p.(Ser1035Cys)
KCNJ13 NM_002242.4 ?/. - c.-67945G>C r.(?) p.(=)