Genomic variant #0000305702

Chromosome 11
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.94341790T>G
DNA change (hg38) -
Published as PIWIL4(NM_152431.2):c.1881T>G (p.D627E)
ISCN -
DB-ID PIWIL4_000002
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) Variant not found in online data sets
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FUT4 NM_002033.3 -?/. - c.*62898T>G likely benign r.(=) p.(=)
PIWIL4 NM_152431.2 -?/. - c.1881T>G likely benign r.(?) p.(Asp627Glu)