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.494C>T - r.(?) p.(Ala165Val) - VUS g.23397850C>T g.23379733C>T PTCHD1(NM_173495.2):c.494C>T (p.A165V, p.(Ala165Val)) - PTCHD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.494C>T - r.(?) p.(Ala165Val) - likely benign g.23397850C>T g.23379733C>T PTCHD1(NM_173495.2):c.494C>T (p.A165V, p.(Ala165Val)) - PTCHD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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