All transcript variants in 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)     

RNA change     

Protein     

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     

Owner     
-/. - c.-5-10G>A r.(=) p.(=) - benign g.13514417C>T g.13492870C>T PTH(NM_000315.3):c.-5-10G>A - PTH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.4A>G r.(?) p.(Ile2Val) - likely benign g.13514399T>C g.13492852T>C PTH(NM_000315.2):c.4A>G (p.(Ile2Val)) - PTH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.247C>A r.(?) p.(Arg83=) - benign g.13514053G>T g.13492506G>T PTH(NM_000315.3):c.247C>A (p.R83=) - PTH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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