All variants in the PTCHD1 gene

Information The variants shown are described using the NM_173495.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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.517A>G - r.(?) p.(Ile173Val) - benign g.23397873A>G g.23379756A>G PTCHD1(NM_173495.2):c.517A>G (p.I173V) - PTCHD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.517A>G - r.(?) p.(Ile173Val) - VUS g.23397873A>G g.23379756A>G PTCHD1(NM_173495.2):c.517A>G (p.I173V) - PTCHD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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