Genomic variant #0000333064

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.7870085G>A
DNA change (hg38) -
Published as PNPLA4(NM_004650.2):c.575C>T (p.(Pro192Leu))
ISCN -
DB-ID PNPLA4_000010 See all 2 reported entries
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) 0.00019 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PNPLA4 NM_004650.2 ?/. - c.575C>T VUS r.(?) p.(Pro192Leu)