Full data view for gene HOGA1

Information The variants shown are described using the NM_138413.3 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.-2061C>T r.(?) p.(=) Unknown - likely benign g.99342400C>T g.97582643C>T ANKRD2(NM_001291218.1):c.1132C>T (p.R378C) - ANKRD2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.208C>T r.(?) p.(Arg70Ter) Unknown - likely pathogenic g.99344668C>T g.97584911C>T - - HOGA1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.209G>C r.(?) p.(Arg70Pro) Maternal (confirmed) - pathogenic g.99344669G>C g.97584912G>C c.209G>C - HOGA1_000004 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - European American - - - - 1 LOVD
?/. - c.269T>A r.(?) p.(Leu90His) Unknown - VUS g.99358589T>A - HOGA1(NM_138413.4):c.269T>A (p.L90H) - C10orf62_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.289C>T r.(?) p.(Arg97Cys) Maternal (confirmed) - pathogenic g.99358609C>T g.97598852C>T c.289C>T - HOGA1_000003 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - European American - - - - 1 LOVD
+/? ? c.289C>T r.(?) p.(Arg97Cys) Maternal (confirmed) - pathogenic g.99358609C>T g.97598852C>T c.289C>T - HOGA1_000003 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - European American - - - - 1 LOVD
+/. - c.290G>A r.(?) p.(Arg97His) Unknown - pathogenic g.99358610G>A - HOGA1(NM_138413.3):c.290G>A (p.(Arg97His)) - C10orf62_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.604-85T>C r.(=) p.(=) Unknown - benign g.99359739T>C g.97599982T>C - - C10orf62_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.700+4G>T r.(?) p.? Maternal (confirmed) - pathogenic g.99359924G>T g.97600167G>T c.701+4G>T, in-frame splice site - HOGA1_000005 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - European American - - - - 1 LOVD
+/? ? c.700+4G>T r.(?) p.? Paternal (confirmed) - pathogenic g.99359924G>T g.97600167G>T c.701+4G>T, in-frame splice site - HOGA1_000005 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - European American - - - - 1 LOVD
+/. - c.700+5G>T r.spl? p.? Unknown - pathogenic g.99359925G>T - HOGA1(NM_138413.4):c.700+5G>T - C10orf62_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.700+5G>T r.spl? p.? Unknown - VUS g.99359925G>T - HOGA1(NM_138413.4):c.700+5G>T - C10orf62_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.700+5G>T r.spl? p.? Unknown - pathogenic g.99359925G>T - HOGA1(NM_138413.4):c.700+5G>T - C10orf62_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.769T>G r.(?) p.(Cys257Gly) Paternal (confirmed) - pathogenic g.99361682T>G g.97601925T>G c.769T>G - HOGA1_000006 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - European American - - - - 1 LOVD
+/? ? c.769T>G r.(?) p.(Cys257Gly) Maternal (confirmed) - pathogenic g.99361682T>G g.97601925T>G c.769T>G - HOGA1_000006 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - European American - - - - 1 LOVD
+/. - c.769T>G r.(?) p.(Cys257Gly) Parent #1 - pathogenic g.99361682T>G g.97601925T>G - - HOGA1_000006 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs267606764 Germline - 1/2774 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.777G>A r.(?) p.(Thr259=) Unknown - likely benign g.99361690G>A - HOGA1(NM_138413.4):c.777G>A (p.T259=) - C10orf62_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.791A>T r.(?) p.(Asp264Val) Unknown - VUS g.99361704A>T - - - C10orf62_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.834G>A r.(?) p.(=) Unknown - pathogenic g.99361747G>A - HOGA1(NM_138413.4):c.834G>A (p.A278=) - C10orf62_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.834+42G>T r.(=) p.(=) Parent #1 - VUS g.99361789G>T g.97602032G>T - - HOGA1_000009 28 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115279832 Germline - 28/2785 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 28 Mohammed Faruq
+/? ? c.860G>T r.(?) p.(Gly287Val) Paternal (confirmed) - pathogenic g.99371292G>T g.97611535G>T c.860G>T - HOGA1_000002 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.860G>T r.(?) p.(Gly287Val) Paternal (confirmed) - pathogenic g.99371292G>T g.97611535G>T c.860G>T - HOGA1_000002 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.860G>T r.(?) p.(Gly287Val) Paternal (confirmed) - pathogenic g.99371292G>T g.97611535G>T c.860G>T - HOGA1_000002 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.860G>T r.(?) p.(Gly287Val) Paternal (confirmed) - pathogenic g.99371292G>T g.97611535G>T c.860G>T - HOGA1_000002 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.860G>T r.(?) p.(Gly287Val) Paternal (confirmed) - pathogenic g.99371292G>T g.97611535G>T c.860G>T - HOGA1_000002 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/. - c.907C>T r.(?) p.(Arg303Cys) Parent #1 - pathogenic g.99371339C>T g.97611582C>T - - HOGA1_000010 1 heterozygous, no homozygous; {DB:CLININ10:99371339} PubMed: Narang 2020, Journal: Narang 2020 - - Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. 7 c.907C>T r.(?) p.(Arg303Cys) Both (homozygous) ACMG pathogenic (recessive) g.99371339C>T - - - HOGA1_000010 - - ClinVar-000204279 rs149150736 Germline - - - - - DNA SEQ-NG-IT - gene panel sequencing including HOGA1, AGXT and GRHPR genes, HP3 HOX311 - - M ? Pakistan Pathan 17y - - - 1 Aiysha Abid
-/. - c.912C>A r.(?) p.(Ala304=) Unknown - benign g.99371344C>A g.97611587C>A HOGA1(NM_138413.4):c.912C>A (p.A304=) - HOGA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.912C>A r.(?) p.(Ala304=) Unknown - benign g.99371344C>A g.97611587C>A HOGA1(NM_138413.4):c.912C>A (p.A304=) - HOGA1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.944_946del r.(?) p.(Glu315del) Maternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Maternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Maternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Maternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Maternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Paternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Maternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Paternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Maternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Paternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Maternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Paternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Maternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Paternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Maternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - Jewish-Ashkenazi - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Paternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - European American - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Paternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - M - - European American - - - - 1 LOVD
+/? ? c.944_946del r.(?) p.(Glu315del) Paternal (confirmed) - pathogenic g.99371376_99371378del g.97611619_97611621del c.944_946delAGG - HOGA1_000001 - PubMed: Belostotsky 2010 - - Unknown - - - - - DNA SEQ - - HP3 - - - F - - European American - - - - 1 LOVD
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