Full data view for gene PHKB

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

37 entries on 1 page. Showing entries 1 - 37.
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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.39G>A r.(?) p.(Trp13Ter) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 4 c.400G>A r.(?) p.(Asp134Asn) Both (homozygous) - likely benign g.47536996G>A g.47503085G>A - - PHKB_000005 - PubMed: Bosch 2016, Journal: Bosch 2016 - - Germline - - - 0 - DNA SEQ-NG - - CVI, ID - PubMed: Bosch 2016, Journal: Bosch 2016 - F yes ? (unknown) - - 0 - - 1 Danielle Bosch
?/. - c.400G>A r.(?) p.(Asp134Asn) Parent #1 - VUS g.47536996G>A g.47503085G>A - - PHKB_000005 conflicting interpretations of pathogenicity; 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144486825 Germline - 15/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 15 Mohammed Faruq
-/. - c.500A>G r.(?) p.(Tyr167Cys) Unknown - benign g.47545670A>G g.47511759A>G PHKB(NM_001031835.2):c.479A>G (p.Y160C) - PHKB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.500A>G r.(?) p.(Tyr167Cys) Parent #1 - VUS g.47545670A>G g.47511759A>G - - PHKB_000011 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs151155518 Germline - 2/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
?/. - c.518A>G r.(?) p.(Asn173Ser) Unknown - VUS g.47549436A>G - PHKB(NM_001031835.2):c.497A>G (p.N166S) - PHKB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.555G>T r.(?) p.(Met185Ile) Unknown - benign g.47549473G>T g.47515562G>T PHKB(NM_001031835.3):c.534G>T (p.M178I) - PHKB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.555G>T r.(?) p.(Met185Ile) Parent #1 - likely benign g.47549473G>T g.47515562G>T - - PHKB_000007 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56257827 Germline - 7/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 7 Mohammed Faruq
+/. - c.573_577del r.(?) p.(Gln191Hisfs*5) Parent #2 - pathogenic (recessive) g.47549491_47549495del g.47515580_47515584del 573_577delGATTA - PHKB_000024 - PubMed: Davit-Spraul 2011 - - Germline - - - 0 - DNA SEQ - - GSD Pat42 PubMed: Davit-Spraul 2011 - M - France - - 0 - - 1 LOVD
-/. - c.775-6G>C r.(=) p.(=) Unknown - benign g.47621573G>C g.47587662G>C - - PHKB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.781T>G r.(?) p.(Ser261Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1068+2T>G r.spl? p.? Unknown - likely pathogenic g.47623015T>G - PHKB(NM_001031835.2):c.1047+2T>G - PHKB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1090G>T r.(?) p.(Glu364*) Parent #1 - pathogenic (recessive) g.47627432G>T g.47593521G>T p.R364X - PHKB_000025 - PubMed: Davit-Spraul 2011 - - Germline - - - 0 - DNA SEQ - - GSD Pat43 PubMed: Davit-Spraul 2011 - M - France - - 0 - - 1 LOVD
+/. 13 c.1257T>A r.(?) p.(Tyr419*) Maternal (confirmed) - pathogenic g.47630336T>A g.47596425T>A - - PHKB_000003 - - - rs121918021 Germline - - - 0 - DNA SEQ, SEQ-NG-I - - GSD - - - F - Australia - - 0 - - 1 Shu Yau
+/. - c.1285C>T r.(?) p.(Arg429*) Both (homozygous) - pathogenic (recessive) g.47630364C>T g.47596453C>T R429X - PHKB_000026 - PubMed: Davit-Spraul 2011 - - Germline - - - 0 - DNA SEQ - - GSD Pat41 PubMed: Davit-Spraul 2011 - F - France - - 0 - - 1 LOVD
+/. - c.1285C>T r.(?) p.(Arg429*) Parent #1 - pathogenic (recessive) g.47630364C>T g.47596453C>T R429X - PHKB_000026 - PubMed: Davit-Spraul 2011 - - Germline - - - 0 - DNA SEQ - - GSD Pat42 PubMed: Davit-Spraul 2011 - M - France - - 0 - - 1 LOVD
-?/. - c.1746A>G r.(?) p.(Leu582=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1969C>A r.(?) p.(Gln657Lys) Parent #1 ACMG VUS g.47684830C>A g.47650919C>A - - PHKB_000009 ACMG grading: PP3; additional variants in MYF6, POMT1, MYH2 PubMed: Fichna 2018 - - Germline - - - 0 - DNA SEQ-NG - WES LGMD 29970176-Pat205 PubMed: Fichna 2018 - F - Poland - - 0 - - 1 Johan den Dunnen
-?/. - c.1969C>A r.(?) p.(Gln657Lys) Unknown - likely benign g.47684830C>A g.47650919C>A PHKB(NM_001031835.3):c.1948C>A (p.Q650K) - PHKB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.1969C>T r.(?) p.(Gln657*) Paternal (inferred) - pathogenic g.47684830C>T g.47650919C>T - - PHKB_000002 - - - rs34667348 Germline - - - 0 - DNA SEQ, SEQ-NG-I - - GSD-9B - - - M - Australia - - 0 - - 1 Shu Yau
+/. 20 c.1969C>T r.(?) p.(Gln657*) Maternal (inferred) - pathogenic g.47684830C>T g.47650919C>T - - PHKB_000002 - - - rs34667348 Germline - - - 0 - DNA SEQ, SEQ-NG-I - - GSD-9B - - - M - Australia - - 0 - - 1 Shu Yau
+/. - c.1969C>T r.(?) p.(Gln657Ter) Unknown - 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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1969C>T r.(?) p.(Gln657Ter) Unknown - pathogenic g.47684830C>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 - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2195A>G r.(?) p.(Asn732Ser) Parent #2 ACMG VUS g.47694729A>G g.47660818A>G - - PHKB_000010 ACMG grading: PP3; additional variants in MYF6, POMT1, MYH2 PubMed: Fichna 2018 - - Germline - - - 0 - DNA SEQ-NG - WES LGMD 29970176-Pat205 PubMed: Fichna 2018 - F - Poland - - 0 - - 1 Johan den Dunnen
-?/. - c.2309A>G r.(?) p.(Tyr770Cys) Unknown - likely benign g.47697618A>G g.47663707A>G PHKB(NM_001031835.3):c.2288A>G (p.Y763C) - PHKB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2309A>G r.(?) p.(Tyr770Cys) Unknown - VUS g.47697618A>G g.47663707A>G PHKB(NM_001031835.3):c.2288A>G (p.Y763C) - PHKB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2309A>G r.(?) p.(Tyr770Cys) Parent #1 - likely benign g.47697618A>G g.47663707A>G - - PHKB_000008 102 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16945474 Germline - 102/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 102 Mohammed Faruq
+/. - c.2427+3A>G r.spl? p.? Parent #2 - pathogenic (recessive) g.47698889A>G g.47664978A>G - - PHKB_000027 - PubMed: Davit-Spraul 2011 - - Germline - - - 0 - DNA SEQ - - GSD Pat43 PubMed: Davit-Spraul 2011 - M - France - - 0 - - 1 LOVD
-?/. - c.2427+964del r.(=) p.(=) Unknown - likely benign g.47699850del g.47665939del PHKB(NM_001031835.2):c.2316-3delC - PHKB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 26 c.2482C>G r.(?) p.(Pro828Ala) Parent #1 - VUS g.47703180C>G g.47669269C>G - - PHKB_000001 patient heterozygous for PYGM variant of unknown significance - - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - GSD - - - F no United Kingdom (Great Britain) - - 0 - - 1 Shu Yau
+?/. 28 c.2867T>A r.(?) p.(Ile956Asn) Paternal (inferred) - likely pathogenic g.47727390T>A g.47693479T>A - - PHKB_000004 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - GSD-9B - - - F - Australia - - 0 - - 1 Shu Yau
+?/. 28 c.2867T>A r.(?) p.(Ile956Asn) Maternal (inferred) - likely pathogenic g.47727390T>A g.47693479T>A - - PHKB_000004 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - GSD-9B - - - F - Australia - - 0 - - 1 Shu Yau
+/. - c.2896-1G>T r.spl? p.? Unknown - pathogenic g.47730291G>T g.47696380G>T PHKB(NM_001031835.3):c.2875-1G>T - PHKB_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3085A>G r.(?) p.(Lys1029Glu) Unknown - likely benign g.47732440A>G - PHKB(NM_001031835.2):c.3064A>G (p.K1022E) - PHKB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3121C>T r.(?) p.(Arg1041Trp) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
?/. - c.3266C>G r.(?) p.(Pro1089Arg) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*641C>A r.(=) p.(=) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
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