Full data view for gene PTH

Information The variants shown are described using the NM_000315.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-5-10G>A benign r.(=) p.(=) Unknown g.13514417C>T - PTH(NM_000315.3):c.-5-10G>A - PTH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4A>G likely benign r.(?) p.(Ile2Val) Unknown g.13514399T>C - PTH(NM_000315.2):c.4A>G (p.(Ile2Val)) - PTH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.247C>A benign r.(?) p.(=) Unknown g.13514053G>T - PTH(NM_000315.3):c.247C>A (p.R83=) - PTH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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