Variant #0000247890 (NC_000002.11:g.233708806A>G, KCNJ13(NM_002242.4):c.-67668T>C)

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.233708806A>G
DNA change (hg38) g.232844096A>G
Published as GIGYF2(NM_001103147.1):c.3003A>G (p.Q1001=), GIGYF2(NM_015575.3):c.2940A>G (p.Q980=)
ISCN -
DB-ID GIGYF2_000013 See all 3 reported entries
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) 0.64898 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GIGYF2 NM_001103146.1 -/. - c.2940A>G r.(?) p.(Gln980=)
KCNJ13 NM_002242.4 -/. - c.-67668T>C r.(?) p.(=)