Genomic variant #0000163117

Individual ID 00100347
Chromosome 3
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.46944817C>T
DNA change (hg38) g.46903327C>T
Published as heterozygous C→T change
ISCN -
DB-ID PTH1R_000009 See all 4 reported entries
Variant remarks -
Reference PubMed: Duchatelet et al. 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Arrate Pereda
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     
PTH1R NM_000316.2 +/. 16 c.1453C>T r.(?) p.(Arg485*) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000100751 DNA SEQ peripheral blood - PTH1R 1 Arrate Pereda