Genomic variant #0000001215

Individual ID 00000016
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.51611651C>A
DNA change (hg38) g.51746853C>A
Published as -
ISCN -
DB-ID PKHD1_000004 See all 6 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (large NGS studies) 0.00315 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PKHD1 NM_138694.3 ?/. - c.9866G>T - r.(?) p.(Ser3289Ile)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000016 DNA SEQ-NG - - ADA, ALG6, ATP7B, CFTR, DPYD, ENPP1, GLB1, IGHMBP2, NPHS1, PKHD1 10 LOVD-team, but with Curator vacancy