Genomic variant #0000079129

Individual ID 00050232
Chromosome 2
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.209302328C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID PTH2R_000001 See all 2 reported entries
Variant remarks association variant/phenotype uncertain
Reference PubMed: DDDS 2015, Journal: DDDS 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PTH2R NM_005048.3 +/. - c.245C>A VUS r.(?) p.(Ser82*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000050177 DNA SEQ;SEQ-NG-I - - PTH2R 1 Johan den Dunnen