Variant #0000087537 (NC_000006.11:g.51923291C>G, NM_138694.3:c.1342G>C (PKHD1))

Individual ID 00057328
Chromosome 6
Allele Parent #1
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.51923291C>G
DNA change (hg38) g.52058493C>G
Published as -
ISCN -
DB-ID PKHD1_000002 See all 5 reported entries
Variant remarks -
Reference PubMed: Sharp 2005
ClinVar ID -
dbSNP ID rs149781976
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00159 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-01-23 03:23:58 +01:00 (CET)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PKHD1 NM_138694.3 +?/. 16 c.1342G>C r.(?) p.(Gly448Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000057289 DNA SEQ - - PKHD1 1 Johan den Dunnen


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