Genomic variant #0000567089

Chromosome 19
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.3813906A>C
DNA change (hg38) -
Published as ZFR2(NM_015174.1):c.2154T>G (p.(Ile718Met))
ISCN -
DB-ID ZFR2_000002
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) 0.01715 View details
Owner VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ZFR2 NM_015174.1 -?/. - c.2154T>G likely benign r.(?) p.(Ile718Met)