Unique variants in the POF1B gene

Information The variants shown are described using the NM_024921.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

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     
-?/. 2 - c.85C>A r.(?) p.(His29Asn) - likely benign g.84634375G>T g.85379370G>T POF1B(NM_024921.3):c.85C>A (p.H29N), POF1B(NM_024921.4):c.85C>A (p.H29N) - POF1B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.113A>C r.(?) p.(Gln38Pro) - likely benign g.84634347T>G g.85379342T>G POF1B(NM_024921.3):c.113A>C (p.(Gln38Pro)) - POF1B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.191A>G r.(?) p.(Gln64Arg) - likely benign g.84634269T>C - POF1B(NM_024921.3):c.191A>G (p.Q64R) - POF1B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.230C>A r.(?) p.(Pro77His) - likely pathogenic g.84634230G>T - - - POF1B_000022 - PubMed: Zaharieva 2016 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.422T>C r.(?) p.(Val141Ala) - likely benign g.84614571A>G - POF1B(NM_024921.3):c.422T>C (p.V141A) - POF1B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.540+1G>T r.spl? p.? - pathogenic g.84606355C>A - POF1B(NM_024921.3):c.540+1G>T - POF1B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.563G>T r.(?) p.(Cys188Phe) - likely benign g.84601026C>A g.85346020C>A POF1B(NM_024921.3):c.563G>T (p.C188F) - POF1B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.716G>C r.(?) p.(Cys239Ser) - VUS g.84600873C>G g.85345867C>G - - POF1B_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.721C>T r.(?) p.(Gln241Ter) - VUS g.84600868G>A - POF1B(NM_024921.3):c.721C>T (p.Q241*) - POF1B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.796C>T r.(?) p.(Arg266Cys) - VUS g.84586013G>A - POF1B(NM_024921.3):c.796C>T (p.R266C) - POF1B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.885G>A r.(?) p.(Ser295=) - likely benign g.84569510C>T g.85314504C>T POF1B(NM_024921.3):c.885G>A (p.S295=, p.(=)) - POF1B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.893T>C r.(?) p.(Ile298Thr) - VUS g.84569502A>G g.85314496A>G POF1B(NM_024921.3):c.893T>C (p.I298T) - POF1B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.943C>T r.(?) p.(Arg315Cys) - likely benign g.84569452G>A g.85314446G>A POF1B(NM_024921.3):c.943C>T (p.R315C, p.(Arg315Cys)) - POF1B_000005 VKGL data sharing initiative Nederland PubMed: Bosch 2016, Journal: Bosch 2016 - - CLASSIFICATION record, Germline - - - - - Danielle Bosch, VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/., -/., ?/. 4 - c.986G>A r.(?) p.(Arg329Gln) - benign, pathogenic, VUS g.84563194C>T g.85308188C>T POF1B(NM_024921.3):c.986G>A (p.R329Q, p.(Arg329Gln)) - POF1B_000009 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Papuc 2019, PubMed: Tarpey 2009 - rs75398746 CLASSIFICATION record, Germline - 1/208 cases - - - Lucy Raymond, VKGL-NL_Leiden, VKGL-NL_Rotterdam, Anaïs Begemann
?/. 1 - c.986G>T r.(?) p.(Arg329Leu) - VUS g.84563194C>A - POF1B(NM_024921.3):c.986G>T (p.R329L) - POF1B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1044T>A r.(?) p.(Asp348Glu) - VUS g.84563136A>T - POF1B(NM_024921.3):c.1044T>A (p.D348E) - POF1B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 4 - c.1045A>T r.(?) p.(Met349Leu) - benign, VUS g.84563135T>A g.85308129T>A POF1B(NM_024921.4):c.1045A>T (p.M349L) - POF1B_000004 recurrent, found 23 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 23/208 cases - - - Yu Sun, Lucy Raymond, VKGL-NL_Groningen
-?/. 2 - c.1300C>A r.(?) p.(Gln434Lys) - likely benign g.84561204G>T g.85306198G>T POF1B(NM_024921.3):c.1300C>A (p.Q434K) - POF1B_000008 VKGL data sharing initiative Nederland PubMed: Zaharieva 2016 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
-/. 1 - c.1371C>G r.(?) p.(Gly457=) - benign g.84560863G>C g.85305857G>C POF1B(NM_024921.3):c.1371C>G (p.G457=) - POF1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1383G>A r.(=) p.(=) - likely benign g.84560851C>T g.85305845C>T T461T - POF1B_000014 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - Lucy Raymond
-?/. 1 - c.1458T>G r.(?) p.(His486Gln) - likely benign g.84559457A>C - POF1B(NM_024921.3):c.1458T>G (p.H486Q) - POF1B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1764+3A>G r.spl? p.? - likely benign g.84537206T>C g.85282200T>C POF1B(NM_024921.3):c.1764+3A>G - POF1B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.*44T>G r.(=) p.(=) - VUS g.84534383A>C g.85279377A>C - - POF1B_000001 - - - - Germline - - - - - Yu Sun
-/. 2 - c.*268T>G r.(=) p.(=) - benign g.84534159A>C g.85279153A>C - - POF1B_000020 29 homozygous; Clinindb (India), 60 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12007581 Germline - 29/2795 individuals, 60/2795 individuals - - - Mohammed Faruq
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