Variant #0000515122 (NC_000002.11:g.233660866C>T, KCNJ13(NM_002242.4):c.-19728G>A)

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.233660866C>T
DNA change (hg38) g.232796156C>T
Published as GIGYF2(NM_015575.3):c.1574C>T (p.S525L)
ISCN -
DB-ID GIGYF2_000034
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) 2.0E-5 View details
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GIGYF2 NM_001103146.1 ?/. - c.1574C>T r.(?) p.(Ser525Leu)
KCNJ13 NM_002242.4 ?/. - c.-19728G>A r.(?) p.(=)