Genomic variant #0000333065

Chromosome X
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.7889852C>T
DNA change (hg38) g.7921811C>T
Published as PNPLA4(NM_001142389.1):c.313G>A (p.(Glu105Lys))
ISCN -
DB-ID PNPLA4_000012
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_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PNPLA4 NM_004650.2 -?/. - c.313G>A r.(?) p.(Glu105Lys)