Full data view for gene PRPH

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

16 entries on 1 page. Showing entries 1 - 16.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.26G>A likely benign r.(?) p.(Arg9Gln) Unknown g.49689009G>A - PRPH:c.26G>A (R9Q) - PRPH_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.26G>A benign r.(?) p.(Arg9Gln) Unknown g.49689009G>A - PRPH:c.26G>A (R9Q) - PRPH_000002 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.53G>A likely benign r.(?) p.(Arg18His) Unknown g.49689036G>A - PRPH:c.53G>A (R18H) - PRPH_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.104C>G - r.(?) p.(Ser35Trp) Maternal (confirmed) g.49689087C>G g.49295304C>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
?/. - c.248C>T VUS r.(?) p.(Ala83Val) Unknown g.49689231C>T - PRPH:c.248C>T (A83V) - PRPH_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.282C>T likely benign r.(=) p.(=) Unknown g.49689265C>T - PRPH:c.282C>T (=) - PRPH_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.506G>T likely benign r.(?) p.(Arg169Leu) Unknown g.49689489G>T - PRPH:c.506G>T (R169L) - PRPH_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.546-6C>T benign r.(=) p.(=) Unknown g.49689955C>T - PRPH:c.546-6C>T - PRPH_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.560C>T VUS r.(?) p.(Thr187Met) Unknown g.49689975C>T - PRPH:c.560C>T (T187M) - PRPH_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.703-19T>G likely benign r.(=) p.(=) Unknown g.49690653T>G - PRPH:c.703-19T>G - PRPH_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.996+1G>A likely benign r.spl? p.? Unknown g.49691057G>A - PRPH:c.996+1G>A - PRPH_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.996+1G>A likely benign r.spl? p.? Unknown g.49691057G>A - PRPH:c.996+1G>A - PRPH_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.996+16C>T likely benign r.(=) p.(=) Unknown g.49691072C>T - PRPH:c.996+16C>T - PRPH_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1107A>G benign r.(=) p.(=) Unknown g.49691250A>G - PRPH:c.1107A>G (=) - PRPH_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1107A>G benign r.(=) p.(=) Unknown g.49691250A>G - PRPH:c.1107A>G (=) - PRPH_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1107A>G benign r.(=) p.(=) Unknown g.49691250A>G - PRPH:c.1107A>G (=) - PRPH_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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