Full data view for gene PTH1R

Information The variants shown are described using the NM_000316.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 13 c.1148G>A r.(?) p.(Arg383Gln) - - - Maternal (confirmed) - - g.46943287G>A g.46901797G>A - - PTH1R_000005 - PubMed: Yamaguchi et al. 2011 - - Germline yes - - 0 - DNA arraySNP, SEQ, SEQ-NG-I peripheral blood, saliva - PFE - PubMed: Yamaguchi 2011 2-generation family, 6 affecteds F - (Japan) - - 0 - - 6 Arrate Pereda
+/. 13 c.1148G>A r.1117_1148del p.Leu373_Arg383del - - - Maternal (confirmed) - - g.46943287G>A g.46901797G>A G->A, nucleotide 1176 - PTH1R_000005 fetus was a compound heterozygote: a confirmed mutation in maternal allele + absence of expression of the paternal allele (abnormality not identified) PubMed: Jobert et al. 1998 - - Germline yes - - 0 - DNA SEQ peripheral blood, chondrocyte-like cells - BOCD - PubMed: Loshkajia 1997 - F no (France) - 00y00m 0 - - 2 Arrate Pereda
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