Genomic variant #0000546116

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.94320265A>C
DNA change (hg38) -
Published as PIWIL4(NM_152431.2):c.766A>C (p.K256Q)
ISCN -
DB-ID FUT4_000001
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) 0.00523 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
FUT4 NM_002033.3 -?/. - c.*41373A>C likely benign r.(=) p.(=)
PIWIL4 NM_152431.2 -?/. - c.766A>C likely benign r.(?) p.(Lys256Gln)