Genomic variant #0000001212

Individual ID 00000007
Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.51917987G>C
DNA change (hg38) g.52053189G>C
Published as -
ISCN -
DB-ID PKHD1_000003 See all 3 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00684 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 ?/. 21 c.2027C>G - r.(?) p.(Pro676Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000000007 DNA SEQ-NG - - ACADM, ATP7B, CDH23, HESX1, HGSNAT, NPHS1, PAH, PKHD1, SERPINA1 9 LOVD-team, but with Curator vacancy