Unique variants in the PHKB gene

Information The variants shown are described using the NM_000293.2 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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     
-/. 1 - c.39G>A r.(?) p.(Trp13Ter) - benign g.47495300G>A g.47461389G>A PHKB(NM_000293.2):c.39G>A (p.W13*) - PHKB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 4 c.400G>A r.(?) p.(Asp134Asn) - likely benign, VUS g.47536996G>A g.47503085G>A - - PHKB_000005 conflicting interpretations of pathogenicity; 15 heterozygous, no homozygous; Clinindb (India) PubMed: Bosch 2016, Journal: Bosch 2016, PubMed: Narang 2020, Journal: Narang 2020 - rs144486825 Germline - 15/2794 individuals - - - Danielle Bosch, Mohammed Faruq
-/., ?/. 2 - c.500A>G r.(?) p.(Tyr167Cys) - benign, VUS g.47545670A>G g.47511759A>G PHKB(NM_001031835.2):c.479A>G (p.Y160C) - PHKB_000011 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs151155518 CLASSIFICATION record, Germline - 2/2794 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
?/. 1 - c.518A>G r.(?) p.(Asn173Ser) - VUS g.47549436A>G - PHKB(NM_001031835.2):c.497A>G (p.N166S) - PHKB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.555G>T r.(?) p.(Met185Ile) - benign, likely benign g.47549473G>T g.47515562G>T PHKB(NM_001031835.3):c.534G>T (p.M178I) - PHKB_000007 7 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs56257827 CLASSIFICATION record, Germline - 7/2795 individuals - - - VKGL-NL_Groningen, Mohammed Faruq
+/. 1 - c.573_577del r.(?) p.(Gln191Hisfs*5) - pathogenic (recessive) g.47549491_47549495del g.47515580_47515584del 573_577delGATTA - PHKB_000024 - PubMed: Davit-Spraul 2011 - - Germline - - - - - LOVD
-/. 1 - c.775-6G>C r.(=) p.(=) - benign g.47621573G>C g.47587662G>C - - PHKB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.781T>G r.(?) p.(Ser261Ala) - VUS g.47621585T>G g.47587674T>G PHKB(NM_001031835.3):c.760T>G (p.S254A) - PHKB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.1068+2T>G r.spl? p.? - likely pathogenic g.47623015T>G - PHKB(NM_001031835.2):c.1047+2T>G - PHKB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1090G>T r.(?) p.(Glu364*) - pathogenic (recessive) g.47627432G>T g.47593521G>T p.R364X - PHKB_000025 - PubMed: Davit-Spraul 2011 - - Germline - - - - - LOVD
+/. 1 13 c.1257T>A r.(?) p.(Tyr419*) - pathogenic g.47630336T>A g.47596425T>A - - PHKB_000003 - - - rs121918021 Germline - - - - - Shu Yau
+/. 2 - c.1285C>T r.(?) p.(Arg429*) - pathogenic (recessive) g.47630364C>T g.47596453C>T R429X - PHKB_000026 - PubMed: Davit-Spraul 2011 - - Germline - - - - - LOVD
-?/. 1 - c.1746A>G r.(?) p.(Leu582=) - likely benign g.47683064A>G g.47649153A>G PHKB(NM_001031835.2):c.1725A>G (p.L575=) - PHKB_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1969C>A r.(?) p.(Gln657Lys) ACMG likely benign, VUS g.47684830C>A g.47650919C>A PHKB(NM_001031835.3):c.1948C>A (p.Q650K) - PHKB_000009 ACMG grading: PP3; additional variants in MYF6, POMT1, MYH2, VKGL data sharing initiative Nederland PubMed: Fichna 2018 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Groningen
+/. 4 20 c.1969C>T r.(?) p.(Gln657*), p.(Gln657Ter) - pathogenic g.47684830C>T g.47650919C>T PHKB(NM_001031835.2):c.1948C>T (p.Q650*), PHKB(NM_001031835.3):c.1948C>T (p.Q650*) - PHKB_000002 VKGL data sharing initiative Nederland - - rs34667348 CLASSIFICATION record, Germline - - - - - Shu Yau, VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.2195A>G r.(?) p.(Asn732Ser) ACMG VUS g.47694729A>G g.47660818A>G - - PHKB_000010 ACMG grading: PP3; additional variants in MYF6, POMT1, MYH2 PubMed: Fichna 2018 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 3 - c.2309A>G r.(?) p.(Tyr770Cys) - likely benign, VUS g.47697618A>G g.47663707A>G PHKB(NM_001031835.3):c.2288A>G (p.Y763C) - PHKB_000008 102 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs16945474 CLASSIFICATION record, Germline - 102/2793 individuals - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Mohammed Faruq
+/. 1 - c.2427+3A>G r.spl? p.? - pathogenic (recessive) g.47698889A>G g.47664978A>G - - PHKB_000027 - PubMed: Davit-Spraul 2011 - - Germline - - - - - LOVD
-?/. 1 - c.2427+964del r.(=) p.(=) - likely benign g.47699850del g.47665939del PHKB(NM_001031835.2):c.2316-3delC - PHKB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 26 c.2482C>G r.(?) p.(Pro828Ala) - VUS g.47703180C>G g.47669269C>G - - PHKB_000001 patient heterozygous for PYGM variant of unknown significance - - - Germline - - - - - Shu Yau
+?/. 2 28 c.2867T>A r.(?) p.(Ile956Asn) - likely pathogenic g.47727390T>A g.47693479T>A - - PHKB_000004 - - - - Germline - - - - - Shu Yau
+/. 1 - c.2896-1G>T r.spl? p.? - pathogenic g.47730291G>T g.47696380G>T PHKB(NM_001031835.3):c.2875-1G>T - PHKB_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.3085A>G r.(?) p.(Lys1029Glu) - likely benign g.47732440A>G - PHKB(NM_001031835.2):c.3064A>G (p.K1022E) - PHKB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3121C>T r.(?) p.(Arg1041Trp) - VUS g.47732476C>T g.47698565C>T - - PHKB_000017 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12918964 Germline - 2/2795 individuals - - - Mohammed Faruq
?/. 1 - c.3266C>G r.(?) p.(Pro1089Arg) - VUS g.47733261C>G g.47699350C>G PHKB(NM_001031835.2):c.3245C>G (p.P1082R) - PHKB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*641C>A r.(=) p.(=) - VUS g.47733918C>A g.47700007C>A - - PHKB_000018 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117861728 Germline - 2/2794 individuals - - - Mohammed Faruq
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