Variant #0000254730 (NC_000011.9:g.94326720A>G, FUT4(NM_002033.3):c.*47828A>G)

Chromosome 11
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.94326720A>G
DNA change (hg38) g.94593554A>G
Published as PIWIL4(NM_152431.3):c.1063A>G (p.M355V)
ISCN -
DB-ID PIWIL4_000001
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) 0.00669 View details
Owner VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FUT4 NM_002033.3 -?/. - c.*47828A>G r.(=) p.(=)
PIWIL4 NM_152431.2 -?/. - c.1063A>G r.(?) p.(Met355Val)