Full data view for 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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 1 c.104C>G - r.(?) p.(Ser35Trp) Maternal (confirmed) g.49689087C>G - - - PRPH_000001 variant not associated with phenotype PubMed: Hendee 2017, Journal: Hendee 2017 - Germline yes - - 0 - DNA PCR, SEQ - WES ? 28722276-FamPatIII3 PubMed: Hendee 2017, Journal: Hendee 2017 3-generation family, 10 affecteds (6F, 4M), PatIII3 M - United States Caucasian - 0 - - 1 Elena Semina
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