Variant #0000515138 (NC_000002.11:g.233721516T>C, KCNJ13(NM_002242.4):c.-80378A>G)

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.233721516T>C
DNA change (hg38) g.232856806T>C
Published as GIGYF2(NM_015575.3):c.3846T>C (p.N1282=)
ISCN -
DB-ID GIGYF2_000046
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) 0.00027 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.3846T>C r.(?) p.(Asn1282=)
KCNJ13 NM_002242.4 -?/. - c.-80378A>G r.(?) p.(=)