Full data view for gene HEXA

Information The variants shown are described using the NM_000520.4 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
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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.-226A>G r.(?) p.(=) Unknown - benign g.72668539T>C g.72376198T>C - - HEXA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1A>T r.(?) p.(Met1?) Unknown - pathogenic g.72668313T>A g.72375972T>A HEXA(NM_000520.5):c.1A>T (p.M1?) - HEXA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8G>C r.(?) p.(Ser3Thr) Unknown - likely benign g.72668306C>G g.72375965C>G HEXA(NM_001318825.1):c.8G>C (p.S3T) - HEXA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.9C>T r.(?) p.(Ser3=) Unknown - benign g.72668305G>A g.72375964G>A HEXA(NM_000520.5):c.9C>T (p.S3=) - HEXA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.65C>T r.(?) p.(Ala22Val) Unknown - VUS g.72668249G>A g.72375908G>A HEXA(NM_000520.4):c.65C>T (p.(Ala22Val)) - HEXA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.234G>A r.(?) p.(Trp78Ter) Unknown - pathogenic g.72668080C>T g.72375739C>T - - HEXA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.409C>T r.(?) p.(Arg137Ter) Unknown - pathogenic g.72647903G>A g.72355562G>A - - HEXA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.409C>T r.(?) p.(Arg137*) Parent #1 - likely pathogenic (recessive) g.72647903G>A g.72355562G>A - - HEXA_000022 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - rs121907962 Germline - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411084 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
+/. - c.508C>T r.(?) p.(Arg170Trp) Unknown - pathogenic g.72645471G>A g.72353130G>A HEXA(NM_000520.5):c.508C>T (p.R170W) - HEXA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.533G>A r.(?) p.(Arg178His) Unknown - VUS g.72645446C>T g.72353105C>T - - HEXA_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.533G>A r.(?) p.(Arg178His) Unknown - pathogenic g.72645446C>T g.72353105C>T HEXA(NM_000520.5):c.533G>A (p.R178H) - HEXA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.533G>A r.(?) p.(Arg178His) Unknown - likely pathogenic g.72645446C>T - HEXA(NM_000520.5):c.533G>A (p.R178H) - HEXA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.548T>A r.(?) p.(Leu183His) Unknown - VUS g.72645431A>T g.72353090A>T HEXA(NM_000520.5):c.548T>A (p.L183H) - HEXA_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.590A>C r.(?) p.(Lys197Thr) Unknown - VUS g.72643556T>G - - - HEXA_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.672+30T>G r.(=) p.(=) Unknown - benign g.72643444A>C g.72351103A>C HEXA(NM_000520.5):c.672+30T>G, HEXA(NM_001318825.1):c.705+30T>G - HEXA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.672+30T>G r.(=) p.(=) Unknown - benign g.72643444A>C g.72351103A>C HEXA(NM_000520.5):c.672+30T>G, HEXA(NM_001318825.1):c.705+30T>G - HEXA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.739C>T r.(?) p.(Arg247Trp) Unknown - likely benign g.72642925G>A g.72350584G>A HEXA(NM_000520.4):c.739C>T (p.(Arg247Trp)), HEXA(NM_000520.5):c.739C>T (p.R247W), HEXA(NM_001318825.1):c.772C>T (p.R258W) - HEXA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.739C>T r.(?) p.(Arg247Trp) Unknown - VUS g.72642925G>A g.72350584G>A HEXA(NM_000520.4):c.739C>T (p.(Arg247Trp)), HEXA(NM_000520.5):c.739C>T (p.R247W), HEXA(NM_001318825.1):c.772C>T (p.R258W) - HEXA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.739C>T r.(?) p.(Arg247Trp) Unknown - likely benign g.72642925G>A g.72350584G>A HEXA(NM_000520.4):c.739C>T (p.(Arg247Trp)), HEXA(NM_000520.5):c.739C>T (p.R247W), HEXA(NM_001318825.1):c.772C>T (p.R258W) - HEXA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.745C>T r.(?) p.(Arg249Trp) Unknown - pathogenic g.72642919G>A g.72350578G>A HEXA(NM_000520.5):c.745C>T (p.R249W) - HEXA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.746G>A r.(?) p.(Arg249Gln) Unknown - VUS g.72642918C>T g.72350577C>T HEXA(NM_001318825.1):c.779G>A (p.R260Q) - HEXA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.749G>A r.(?) p.(Gly250Asp) Unknown - pathogenic g.72642915C>T g.72350574C>T HEXA(NM_000520.5):c.749G>A (p.G250D) - HEXA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.759G>A r.(?) p.(Val253=) Unknown - benign g.72642905C>T g.72350564C>T HEXA(NM_000520.5):c.759G>A (p.V253=) - HEXA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.759G>A r.(?) p.(Val253=) Unknown - likely benign g.72642905C>T g.72350564C>T HEXA(NM_000520.5):c.759G>A (p.V253=) - HEXA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.805G>A r.(?) p.(Gly269Ser) Unknown - VUS g.72642859C>T g.72350518C>T - - HEXA_000004 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.805G>A r.(?) p.(Gly269Ser) Unknown - pathogenic g.72642859C>T g.72350518C>T HEXA(NM_000520.5):c.805G>A (p.G269S) - HEXA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.805G>A r.(?) p.(Gly269Ser) Both (homozygous) ACMG pathogenic g.72642859C>T g.72350518C>T - - HEXA_000004 Navon et al. 1989. Science 243: 1471 - - rs121907954 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
+/. - c.805+1G>A r.spl? p.? Unknown - pathogenic g.72642858C>T g.72350517C>T HEXA(NM_000520.5):c.805+1G>A - HEXA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8 c.915_917del r.(?) p.(Phe305del) Unknown - pathogenic g.72641494_72641496del g.72349153_72349155del 915_917delCTT - HEXA_000005 - - - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - SCAR - ATX46 - M - France - - 0 - - 1 Claire Guissart
?/. - c.1073+1G>A r.(=) p.(=) Unknown - VUS g.72640388C>T g.72348047C>T INTRON 9, IVS9+1G>A, CHR15:70427442G>A - HEXA_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1073+1G>A r.spl? p.? Unknown - pathogenic g.72640388C>T g.72348047C>T HEXA(NM_000520.5):c.1073+1G>A - HEXA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1073+1G>A r.(?) p.(?) Unknown ACMG pathogenic g.72640388C>T g.72348047C>T - - HEXA_000001 ACMG: PVS1,PM2,PM3; phase unknown, sister also affected - - rs76173977 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
-/. - c.1074-94C>A r.(=) p.(=) Unknown - benign g.72640193G>T g.72347852G>T HEXA(NM_000520.5):c.1074-94C>A - HEXA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1107C>T r.(?) p.(Gly369=) Unknown - likely benign g.72640066G>A g.72347725G>A HEXA(NM_000520.5):c.1107C>T (p.G369=) - HEXA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1154C>T r.(?) p.(Pro385Leu) Unknown - VUS g.72639044G>A g.72346703G>A - - HEXA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1154C>T r.(?) p.(Pro385Leu) Parent #2 - likely pathogenic (recessive) g.72639044G>A g.72346703G>A - - HEXA_000021 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411084 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - 1 Johan den Dunnen
?/. - c.1178G>A r.(?) p.(Arg393Gln) Parent #1 - VUS g.72639020C>T g.72346679C>T - - HEXA_000040 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs370266293 Germline - 5/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
-?/. - c.1182G>C r.(?) p.(Glu394Asp) Unknown - likely benign g.72639016C>G - HEXA(NM_001318825.1):c.1215G>C (p.E405D) - HEXA_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1216C>T r.(?) p.(Leu406=) Unknown - likely benign g.72638982G>A g.72346641G>A HEXA(NM_001318825.1):c.1249C>T (p.L417=) - HEXA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1274_1277dup r.(?) p.(Tyr427Ilefs*5) Unknown - VUS g.72638921_72638924dup g.72346580_72346583dup - - HEXA_000002 - - - - Germline - - - - - DNA SEQ-NG - - ? - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.1274_1277dup r.(?) p.(Tyr427IlefsTer5) Unknown - likely pathogenic g.72638921_72638924dup g.72346580_72346583dup HEXA(NM_000520.4):c.1277_1278insTATC (p.(Tyr427IlefsTer5)), HEXA(NM_001318825.1):c.1307_1310dupTATC (p.Y438Ifs*5) - HEXA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1274_1277dup r.(?) p.(Tyr427IlefsTer5) Unknown - pathogenic g.72638921_72638924dup - HEXA(NM_000520.4):c.1277_1278insTATC (p.(Tyr427IlefsTer5)), HEXA(NM_001318825.1):c.1307_1310dupTATC (p.Y438Ifs*5) - HEXA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1305C>T r.(?) p.(Tyr435Tyr) Unknown ACMG pathogenic g.72638893G>A g.72346552G>A - - HEXA_000038 ACMG: PS3,PM2,PM3,PP4,PP5; phase unknown, sister also affected; Levit et al. 2010. Mol Genet Metab. 100: 176 - - rs587779406 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
-/. - c.1306A>G r.(?) p.(Ile436Val) Unknown - benign g.72638892T>C g.72346551T>C HEXA(NM_000520.5):c.1306A>G (p.I436V) - HEXA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1306A>G r.(?) p.(Ile436Val) Unknown - benign g.72638892T>C g.72346551T>C HEXA(NM_000520.5):c.1306A>G (p.I436V) - HEXA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1306A>G r.(?) p.(Ile436Val) Unknown - benign g.72638892T>C g.72346551T>C HEXA(NM_000520.5):c.1306A>G (p.I436V) - HEXA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1338T>C r.(?) p.(Pro446=) Unknown - likely benign g.72638659A>G g.72346318A>G HEXA(NM_000520.5):c.1338T>C (p.P446=) - HEXA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1421+1G>C r.spl? p.? Unknown - pathogenic g.72638575C>G g.72346234C>G HEXA(NM_000520.5):c.1421+1G>C - HEXA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1422-69G>A r.(=) p.(=) Unknown - benign g.72637960C>T g.72345619C>T HEXA(NM_000520.5):c.1422-69G>A - HEXA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1432G>A r.(?) p.(Gly478Arg) Unknown - pathogenic g.72637881C>T g.72345540C>T - - HEXA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1435G>A r.(?) p.(Ala479Thr) Parent #1 - likely benign g.72637878C>T g.72345537C>T - - HEXA_000039 39 heterozygous; Clinindb (India) Faruq 2020, submtted - rs145012038 Germline - 39/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 39 Mohammed Faruq
-?/. - c.1435G>A r.(?) p.(Ala479Thr) Both (homozygous) - likely benign g.72637878C>T g.72345537C>T - - HEXA_000039 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs145012038 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.1443C>T r.(?) p.(Ala481=) Unknown - likely benign g.72637870G>A g.72345529G>A HEXA(NM_001318825.1):c.1476C>T (p.A492=) - HEXA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1490A>G r.(?) p.(Tyr497Cys) Unknown - VUS g.72637823T>C g.72345482T>C HEXA(NM_000520.5):c.1490A>G (p.Y497C) - HEXA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1496G>A r.(?) p.(Arg499His) Unknown - pathogenic g.72637817C>T g.72345476C>T HEXA(NM_000520.5):c.1496G>A (p.R499H) - HEXA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1518A>G r.(?) p.(Glu506=) Unknown - benign g.72637795T>C g.72345454T>C HEXA(NM_000520.5):c.1518A>G (p.E506=) - HEXA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1518A>G r.(?) p.(Glu506=) Unknown - benign g.72637795T>C g.72345454T>C HEXA(NM_000520.5):c.1518A>G (p.E506=) - HEXA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1518A>G r.(?) p.(Glu506=) Unknown - benign g.72637795T>C g.72345454T>C HEXA(NM_000520.5):c.1518A>G (p.E506=) - HEXA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1527-6T>C r.(=) p.(=) Unknown - likely benign g.72636487A>G g.72344146A>G HEXA(NM_000520.5):c.1527-6T>C - HEXA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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