Genomic variant #0000168830

Individual ID 00102104
Chromosome X
Allele Both (homozygous)
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.7889828C>T
DNA change (hg38) g.7921787C>T
Published as -
ISCN -
DB-ID PNPLA4_000004
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00019 View details
Owner Muhammad Umair




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PNPLA4 NM_004650.2 -/. 4 c.337G>A - r.(?) p.(Val113Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000102555 DNA SEQ-NG-I - - MAD1L1 4 Muhammad Umair