Genomic variant #0000163137

Individual ID 00100366
Chromosome 3
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification -
DNA change (genomic) (Relative to hg19 / GRCh37) g.46940059G>A
DNA change (hg38) g.46898569G>A
Published as -
ISCN -
DB-ID PTH1R_000024 See all 2 reported entries
Variant remarks -
Reference PubMed: Frazier-Bowers et al. 2014
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
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 ?/. 8i c.639-93G>A r.(=) p.(=) - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000100770 DNA SEQ buccal cells, saliva - PTH1R 1 Arrate Pereda