All transcript variants in gene PRPH

Information The variants shown are described using the NM_006262.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 c.104C>G - r.(?) p.(Ser35Trp) g.49689087C>G - - - PRPH_000001 variant not associated with phenotype PubMed: Hendee 2017, Journal: Hendee 2017 - Germline yes - - 0 - Johan den Dunnen
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