Full data view for gene PRPH

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

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.26G>A r.(?) p.(Arg9Gln) Unknown - likely benign g.49689009G>A g.49295226G>A PRPH(NM_006262.3):c.26G>A (p.R9Q), PRPH(NM_006262.4):c.26G>A (p.R9Q) - PRPH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.26G>A r.(?) p.(Arg9Gln) Unknown - benign g.49689009G>A g.49295226G>A PRPH(NM_006262.3):c.26G>A (p.R9Q), PRPH(NM_006262.4):c.26G>A (p.R9Q) - PRPH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.26G>A r.(?) p.(Arg9Gln) Parent #1 - VUS g.49689009G>A g.49295226G>A - - PRPH_000002 no interpretation available; 145 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs57451017 Germline - 145/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 145 Mohammed Faruq
?/. - c.26G>A r.(?) p.(Arg9Gln) Both (homozygous) - VUS g.49689009G>A g.49295226G>A - - PRPH_000002 no interpretation available; 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs57451017 Germline - 4/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.53G>A r.(?) p.(Arg18His) Unknown - likely benign g.49689036G>A g.49295253G>A PRPH(NM_006262.4):c.53G>A (p.R18H) - PRPH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.63C>T r.(=) p.(=) Parent #1 - VUS g.49689046C>T g.49295263C>T - - PRPH_000015 no interpretation available; 119 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs58403142 Germline - 119/2790 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 119 Mohammed Faruq
?/. - c.63C>T r.(=) p.(=) Both (homozygous) - VUS g.49689046C>T g.49295263C>T - - PRPH_000015 no interpretation available; 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs58403142 Germline - 4/2790 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+/. 1 c.104C>G r.(?) p.(Ser35Trp) Maternal (confirmed) - pathogenic g.49689087C>G g.49295304C>G - - PRPH_000001 variant not associated with phenotype PubMed: Hendee 2017, Journal: Hendee 2017 - - Germline yes - - - - DNA PCR, SEQ - WES ? 28722276-FamPatIII3 PubMed: Hendee 2017, Journal: Hendee 2017 3-generation family, 10 affecteds (6F, 4M), PatIII3 M - United States white - - - - 1 Elena Semina
?/. - c.248C>T r.(?) p.(Ala83Val) Unknown - VUS g.49689231C>T g.49295448C>T PRPH(NM_006262.3):c.248C>T (p.A83V) - PRPH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.282C>T r.(?) p.(Arg94=) Unknown - likely benign g.49689265C>T g.49295482C>T PRPH(NM_006262.4):c.282C>T (p.R94=) - PRPH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.421G>T r.(?) p.(Asp141Tyr) Unknown - VUS g.49689404G>T - PRPH(NM_006262.4):c.421G>T (p.(Asp141Tyr)) - PRPH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.506G>T r.(?) p.(Arg169Leu) Unknown - likely benign g.49689489G>T g.49295706G>T PRPH(NM_006262.4):c.506G>T (p.R169L) - PRPH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.546-6C>T r.(=) p.(=) Unknown - benign g.49689955C>T g.49296172C>T PRPH(NM_006262.4):c.546-6C>T - PRPH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.560C>T r.(?) p.(Thr187Met) Unknown - VUS g.49689975C>T g.49296192C>T PRPH(NM_006262.3):c.560C>T (p.T187M) - PRPH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.703-19T>G r.(=) p.(=) Unknown - likely benign g.49690653T>G g.49296870T>G PRPH(NM_006262.3):c.703-19T>G - PRPH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.829G>A r.(?) p.(Ala277Thr) Parent #1 - VUS g.49690798G>A g.49297015G>A - - PRPH_000016 no interpretation available; 121 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62636520 Germline - 121/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 121 Mohammed Faruq
?/. - c.829G>A r.(?) p.(Ala277Thr) Both (homozygous) - VUS g.49690798G>A g.49297015G>A - - PRPH_000016 no interpretation available; 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs62636520 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.996+1G>A r.spl? p.? Unknown - likely benign g.49691057G>A g.49297274G>A PRPH(NM_006262.3):c.996+1G>A, PRPH(NM_006262.4):c.996+1G>A - PRPH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.996+1G>A r.spl? p.? Unknown - likely benign g.49691057G>A g.49297274G>A PRPH(NM_006262.3):c.996+1G>A, PRPH(NM_006262.4):c.996+1G>A - PRPH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.996+1G>A r.spl? p.? Parent #1 - VUS g.49691057G>A g.49297274G>A - - PRPH_000010 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs73112142 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.996+1G>A r.spl? p.? Unknown - VUS g.49691057G>A - PRPH(NM_006262.3):c.996+1G>A, PRPH(NM_006262.4):c.996+1G>A - PRPH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.996+16C>T r.(=) p.(=) Unknown - likely benign g.49691072C>T g.49297289C>T PRPH(NM_006262.4):c.996+16C>T - PRPH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1007T>C r.(?) p.(Leu336Pro) Unknown - VUS g.49691150T>C - PRPH(NM_006262.4):c.1007T>C (p.L336P) - PRPH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1093C>G r.(?) p.(Leu365Val) Unknown - VUS g.49691236C>G - PRPH(NM_006262.4):c.1093C>G (p.L365V) - PRPH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1107A>G r.(?) p.(Lys369=) Unknown - benign g.49691250A>G g.49297467A>G PRPH(NM_006262.3):c.1107A>G (p.K369=), PRPH(NM_006262.4):c.1107A>G (p.K369=) - PRPH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1107A>G r.(?) p.(Lys369=) Unknown - benign g.49691250A>G g.49297467A>G PRPH(NM_006262.3):c.1107A>G (p.K369=), PRPH(NM_006262.4):c.1107A>G (p.K369=) - PRPH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1107A>G r.(?) p.(Lys369=) Unknown - benign g.49691250A>G g.49297467A>G PRPH(NM_006262.3):c.1107A>G (p.K369=), PRPH(NM_006262.4):c.1107A>G (p.K369=) - PRPH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1109_1110del r.(?) p.(Glu370Glyfs*55) Unknown - VUS g.49691252_49691253del - PRPH(NM_006262.4):c.1109_1110delAG (p.E370Gfs*55) - PRPH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*25371C>A r.(=) p.(=) Unknown - VUS g.49717507C>A - TROAP(NM_005480.3):c.116C>A (p.(Ala39Asp)) - PRPH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*25893C>G r.(=) p.(=) Unknown - VUS g.49718029C>G g.49324246C>G TROAP(NM_001100620.1):c.429C>G (p.(Tyr143Ter)) - PRPH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*27300G>T r.(=) p.(=) Unknown - likely benign g.49719436G>T - TROAP(NM_005480.3):c.490G>T (p.(Val164Phe)) - PRPH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*28347T>C r.(=) p.(=) Unknown - likely benign g.49720483T>C - TROAP(NM_005480.3):c.749T>C (p.(Leu250Pro)) - PRPH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*30627G>T r.(=) p.(=) Unknown - VUS g.49722763G>T g.49328980G>T TROAP(NM_001100620.1):c.*4728G>T (p.(=)) - C1QL4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*30628C>T r.(=) p.(=) Unknown - VUS g.49722764C>T g.49328981C>T TROAP(NM_001100620.1):c.*4729C>T (p.(=)) - C1QL4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*30680C>T r.(=) p.(=) Unknown - likely benign g.49722816C>T g.49329033C>T TROAP(NM_005480.4):c.998C>T (p.P333L) - C1QL4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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