Full data view for gene AHCY

Information The variants shown are described using the NM_000687.4 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.28+7C>T r.(?) p.(=) Unknown - likely benign g.32891042G>A g.34303236G>A AHCY(NM_000687.2):c.28+7C>T (p.(=)) - AHCY_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.56G>A r.(?) p.(Arg19His) Unknown ACMG VUS g.32883364C>T g.34295558C>T - - AHCY_000015 - Verebi et al. (submitted) - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - WGS AHCYD - Verebi et al. (submitted) - F - France - - - - - 1 Camille Verebi
?/. - c.65T>C r.(?) p.(Leu22Pro) Paternal (confirmed) ACMG VUS g.32883355A>G g.34295549A>G - - AHCY_000014 - Pending - - Germline - - - - - DNA SEQ-NG-I - WGS LGMD - Pending - F - France - - - - - 1 Camille Verebi
+/. - c.106C>T r.(?) p.(Arg36Trp) Parent #2 - pathogenic (recessive) g.32883314G>A g.34295508G>A - - AHCY_000028 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - WGS ? patient PubMed: Huang 2022 2-generation family, 1 affected, unaffected parents M no United States - 00y12m - - dietary management 1 Johan den Dunnen
-/. - c.112C>T r.(?) p.(Arg38Trp) Unknown - benign g.32883308G>A g.34295502G>A AHCY(NM_001161766.2):c.28C>T (p.R10W) - AHCY_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.112C>T r.(?) p.(Arg38Trp) Parent #1 - benign g.32883308G>A g.34295502G>A - - AHCY_000008 25 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs13043752 Germline - 25/2790 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 25 Mohammed Faruq
-?/. - c.119C>T r.(?) p.(Ser40Leu) Unknown - likely benign g.32883301G>A g.34295495G>A AHCY(NM_001161766.2):c.35C>T (p.S12L) - AHCY_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.142G>A r.(?) p.(Ala48Thr) Parent #1 - pathogenic (recessive) g.32883278C>T g.34295472C>T - - AHCY_000027 - PubMed: Huang 2022 - - Germline - - - - - DNA SEQ - WGS ? patient PubMed: Huang 2022 2-generation family, 1 affected, unaffected parents M no United States - 00y12m - - dietary management 1 Johan den Dunnen
+/. - c.142G>A r.(?) p.(Ala48Thr) Parent #1 - pathogenic (recessive) g.32883278C>T g.34295472C>T NM_001322086.1:c.148G>A - AHCY_000027 - PubMed: Grudzinska Pechhacker 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal degeneration FamPatII1 PubMed: Grudzinska Pechhacker 2020 3-generation family, 3 affected F - Cambodia - - - - - 3 Johan den Dunnen
+/. - c.142G>A r.(?) p.(Ala48Thr) Both (homozygous) - pathogenic (recessive) g.32883278C>T g.34295472C>T NM_001322086.1:c.148G>A - AHCY_000027 - PubMed: Grudzinska Pechhacker 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPatIII1 PubMed: Grudzinska Pechhacker 2020 daughter F - Cambodia - - - - - 1 Johan den Dunnen
+/. - c.142G>A r.(?) p.(Ala48Thr) Both (homozygous) - pathogenic (recessive) g.32883278C>T g.34295472C>T NM_001322086.1:c.148G>A - AHCY_000027 - PubMed: Grudzinska Pechhacker 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES AHCYD FamPatIII2 PubMed: Grudzinska Pechhacker 2020 son M - Cambodia - - - - - 1 Johan den Dunnen
+/. - c.145C>T r.(?) p.(Arg49Cys) Paternal (confirmed) - pathogenic (recessive) g.32883275G>A g.34295469G>A - - AHCY_000018 - PubMed: Vugrek 2009, PubMed: Grubbs 2010 - - Germline yes - - - - DNA SEQ - - AHCYD FamPat1/2 PubMed: Vugrek 2009, PubMed: Grubbs 2010 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Croatia (Hrvatska) - - - - - 2 Johan den Dunnen
+/. - c.145C>T r.(?) p.(Arg49Cys) Parent #1 - pathogenic (recessive) g.32883275G>A g.34295469G>A - - AHCY_000018 - PubMed: Honzik 2012 - - Germline - - - - - DNA SEQ - - AHCYD patient PubMed: Honzik 2012 2-generation family, 1 affected F - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.146G>A r.(?) p.(Arg49His) Both (homozygous) - pathogenic (recessive) g.32883274C>T g.34295468C>T - - AHCY_000024 - PubMed: Stender 2015 - - Germline yes - - - - DNA SEQ - WES AHCYD FamPatIII2 PubMed: Stender 2015 4-generation family, 4 affected (F, 3M) F yes United States Pakistan - - - - 4 Johan den Dunnen
+/. - c.146G>A r.(?) p.(Arg49His) Both (homozygous) - pathogenic (recessive) g.32883274C>T g.34295468C>T - - AHCY_000024 - PubMed: Stender 2015 - - Germline yes - - - - DNA SEQ - - AHCYD FamPatIV2 PubMed: Stender 2015 son M yes United States Pakistan - - - - 1 Johan den Dunnen
+/. - c.146G>A r.(?) p.(Arg49His) Both (homozygous) - pathogenic (recessive) g.32883274C>T g.34295468C>T - - AHCY_000024 - PubMed: Lipari Pinto 2024 - - Germline yes - - - - DNA SEQ - - AHCYD FamPat1 PubMed: Lipari Pinto 2024 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Pakistan - - - - - 2 Johan den Dunnen
+/. - c.170C>T r.(?) p.(Thr57Ile) Maternal (confirmed) - pathogenic (recessive) g.32883250G>A g.34295444G>A - - AHCY_000020 - PubMed: Bas 2020 - - Germline - - - - - DNA SEQ - WES AHCYD patient PubMed: Bas 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Turkey - - - - - 1 Johan den Dunnen
+/. - c.211G>A r.(?) p.(Gly71Ser) Parent #2 - pathogenic (recessive) g.32883209C>T g.34295403C>T - - AHCY_000022 - PubMed: Honzik 2012 - - Germline - - - - - DNA SEQ - - AHCYD patient PubMed: Honzik 2012 2-generation family, 1 affected F - Czech Republic - - - - - 1 Johan den Dunnen
+/. - c.257A>G r.(?) p.(Asp86Gly) Maternal (confirmed) - pathogenic (recessive) g.32881925T>C g.34294119T>C - - AHCY_000019 - PubMed: Vugrek 2009, PubMed: Grubbs 2010 - - Germline yes - - - - DNA SEQ - - AHCYD FamPat1/2 PubMed: Vugrek 2009, PubMed: Grubbs 2010 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Croatia (Hrvatska) - - - - - 2 Johan den Dunnen
+/. - c.266C>T r.(?) p.(Ala89Val) Paternal (confirmed) ACMG pathogenic g.32881916G>A g.34294110G>A - - AHCY_000002 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AHCYD - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - - - - 1 Daniel Trujillano
+?/. - c.266C>T r.(?) p.(Ala89Val) Unknown - likely pathogenic (recessive) g.32881916G>A g.34294110G>A - - AHCY_000002 enzyme activity <0.10 PubMed: Buist 2006 - - De novo - - - - - DNA SEQ - - AHCYD patient PubMed: Buist 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.266C>T r.(?) p.(Ala89Val) Parent #1 - pathogenic (recessive) g.32881916G>A g.34294110G>A - - AHCY_000002 - PubMed: Vivante 2017 - - Germline - 1/21 families rhabdomyolysis - - - DNA SEQ, SEQ-NG - WES ? AN20 PubMed: Vivante 2017 analysis 21 rhabdomyolysis families; patient. no family history - - Israel jew-Sephardic - - - - 1 Johan den Dunnen
-?/. - c.274A>G r.(?) p.(Ile92Val) Unknown - likely benign g.32881908T>C g.34294102T>C AHCY(NM_000687.2):c.274A>G (p.(Ile92Val)), AHCY(NM_001161766.2):c.190A>G (p.I64V), AHCY(NM_001322086.1):c.280A>G (p.I94V) - AHCY_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.274A>G r.(?) p.(Ile92Val) Unknown - likely benign g.32881908T>C g.34294102T>C AHCY(NM_000687.2):c.274A>G (p.(Ile92Val)), AHCY(NM_001161766.2):c.190A>G (p.I64V), AHCY(NM_001322086.1):c.280A>G (p.I94V) - AHCY_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.274A>G r.(?) p.(Ile92Val) Unknown - likely benign g.32881908T>C g.34294102T>C AHCY(NM_000687.2):c.274A>G (p.(Ile92Val)), AHCY(NM_001161766.2):c.190A>G (p.I64V), AHCY(NM_001322086.1):c.280A>G (p.I94V) - AHCY_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.293C>T r.(?) p.(Pro98Leu) Unknown - pathogenic g.32881889G>A g.34294083G>A AHCY(NM_001161766.2):c.209C>T (p.P70L) - AHCY_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.293C>T r.(?) p.(Pro98Leu) Parent #1 - pathogenic (recessive) g.32881889G>A g.34294083G>A ref?:c.293C>T - AHCY_000007 - PubMed: Soden 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? CMH320/321 PubMed: Soden 2014 family, 2 affected - - United States - - - - - 2 Johan den Dunnen
+/. - c.322G>A r.(?) p.(Glu108Lys) Paternal (confirmed) - pathogenic (recessive) g.32880287C>T g.34292481C>T Glu108Lys - AHCY_000025 - PubMed: Judkins 2018 - - Germline - - - - - DNA SEQ - - AHCYD patient PubMed: Judkins 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.336G>A r.(?) p.(Trp112Ter) Maternal (confirmed) - pathogenic (recessive) g.32880273C>T g.34292467C>T G>A Tyr112stop - AHCY_000017 - PubMed: Baric 2004 - - Germline - - - - - DNA SEQ - - AHCYD FamPat1 PubMed: Baric 2004,PubMed: Baric 2005 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents; 3rd brother reported in Cuk 2007 (Clin Chem Lab Med 2007;45:A43) M - Croatia (Hrvatska) - - - - - 3 Johan den Dunnen
?/. - c.367G>A r.(?) p.(Gly123Arg) Unknown - VUS g.32880242C>T g.34292436C>T AHCY(NM_001322086.2):c.373G>A (p.G125R) - AHCY_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.428A>G r.(?) p.(Tyr143Cys) Maternal (confirmed) ACMG pathogenic g.32880181T>C g.34292375T>C - - AHCY_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - AHCYD - PubMed: Trujillano 2017 unaffected heterozygous carrier parents - - - - - - - - 1 Daniel Trujillano
+/. - c.428A>G r.(?) p.(Tyr143Cys) Parent #2 - pathogenic (recessive) g.32880181T>C g.34292375T>C ref?:c.428A>G - AHCY_000001 - PubMed: Soden 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? CMH320/321 PubMed: Soden 2014 family, 2 affected - - United States - - - - - 2 Johan den Dunnen
+?/. 4 c.428A>G r.(?) p.(Tyr143Cys) Maternal (confirmed) ACMG pathogenic g.32880181T>C g.34292375T>C - - AHCY_000001 - Verebi et al. (submitted) - - Germline - - - - - DNA SEQ-NG-I - WGS AHCYD - Verebi et al. (submitted) - F - France - - - - - 1 Camille Verebi
+/. - c.428A>G r.(?) p.(Tyr143Cys) Paternal (confirmed) - pathogenic (recessive) g.32880181T>C g.34292375T>C A>G Tyr143Cys - AHCY_000001 - PubMed: Baric 2004 - - Germline - - - - - DNA SEQ - - AHCYD FamPat1 PubMed: Baric 2004,PubMed: Baric 2005 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents; 3rd brother reported in Cuk 2007 (Clin Chem Lab Med 2007;45:A43) M - Croatia (Hrvatska) - - - - - 3 Johan den Dunnen
+/. - c.428A>G r.(?) p.(Tyr143Cys) Paternal (confirmed) - pathogenic (recessive) g.32880181T>C g.34292375T>C - - AHCY_000001 - PubMed: Buist 2006 - - Germline - - - - - DNA SEQ - - AHCYD patient PubMed: Buist 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.428A>G r.(?) p.(Tyr143Cys) Parent #1 - pathogenic (recessive) g.32880181T>C g.34292375T>C - - AHCY_000001 - PubMed: Strauss 2015 - - Germline - - - - - DNA SEQ - - AHCYD patient PubMed: Strauss 2015 2-generation family, 1 affected F - United States - - - - - 1 Johan den Dunnen
+/. - c.428A>G r.(?) p.(Tyr143Cys) Parent #2 - pathogenic (recessive) g.32880181T>C g.34292375T>C - - AHCY_000001 - PubMed: Vivante 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? AN20 PubMed: Vivante 2017 analysis 21 rhabdomyolysis families; patient. no family history - - Israel jew-Sephardic - - - - 1 Johan den Dunnen
?/. - c.431C>T r.(?) p.(Pro144Leu) Maternal (confirmed) ACMG VUS g.32880178G>A g.34292372G>A - - AHCY_000013 - Pending - - Germline - - - - - DNA SEQ-NG-I - WGS LGMD - Pending - F - France - - - - - 1 Camille Verebi
+?/. - c.649G>A r.(?) p.(Val217Met) Paternal (confirmed) - likely pathogenic (recessive) g.32878654C>T g.34290848C>T - - AHCY_000021 - PubMed: Bas 2020 - - Germline - - - - - DNA SEQ - WES AHCYD patient PubMed: Bas 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Turkey - - - - - 1 Johan den Dunnen
-?/. - c.853C>T r.(?) p.(Arg285Trp) Unknown - likely benign g.32878358G>A g.34290552G>A AHCY(NM_000687.4):c.853C>T (p.(Arg285Trp)) - AHCY_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.973-7C>T r.(?) p.(=) Unknown - benign g.32873447G>A g.34285641G>A AHCY(NM_000687.4):c.973-7C>T - AHCY_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.982T>G r.(?) p.(Tyr328Asp) Parent #2 - pathogenic (recessive) g.32873431A>C g.34285625A>C - - AHCY_000023 - PubMed: Strauss 2015 - - Germline - - - - - DNA SEQ - - AHCYD patient PubMed: Strauss 2015 2-generation family, 1 affected F - United States - - - - - 1 Johan den Dunnen
+/. - c.982T>G r.(?) p.(Tyr328Asp) Maternal (confirmed) - pathogenic (recessive) g.32873431A>C g.34285625A>C Tyr328Asp - AHCY_000023 - PubMed: Judkins 2018 - - Germline - - - - - DNA SEQ - - AHCYD patient PubMed: Judkins 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.1000C>T r.(?) p.(Arg334Cys) Unknown - VUS g.32873413G>A g.34285607G>A AHCY(NM_001322086.2):c.1006C>T (p.R336C) - AHCY_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1043G>T r.(?) p.(Gly348Val) Both (homozygous) ACMG likely pathogenic (recessive) g.32873370C>A g.34285564C>A - - AHCY_000026 ACMG PP1, PP3, PP4, PM2 PubMed: Ciki 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? patient PubMed: Ciki 2024 2-generation family, 1 affected F yes Turkey - - - - - 1 Johan den Dunnen
+/. 10 c.1207_1210del r.1207_1210del p.Asn403Ter Maternal (confirmed) ACMG pathogenic (dominant) g.32868931_32868934del g.34281125_34281128del NM_000687.4:c.1207_1210del - AHCY_000016 - Kožich 2026, submitted - - Germline yes - - - - DNA, RNA, protein minigene, SEQ, SEQ-NG-I, Western blood, fibroblasts gene panel, WGS, RT-PCXR product sequencing, expression of mutant minigene AHCYD PatIII1 Kožich 2026, submitted - M no Czech Republic white >15y - pedigree available dietary methionine restriction 4 Viktor Kožich
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