Full data view for gene HPRT1

Information The variants shown are described using the NM_000194.2 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.-96471_*205729del r.0? p.0? Unknown - pathogenic g.133497872_133839837del g.134363842_134705807del - - HPRT1_000008 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.27+1G>A r.spl? p.? Unknown - pathogenic g.133594369G>A g.134460339G>A HPRT1(NM_000194.3):c.27+1G>A - HPRT1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77A>C r.(?) p.(Asn26Thr) Unknown - VUS g.133607438A>C g.134473408A>C HPRT1(NM_000194.2):c.77A>C (p.(Asn26Thr)), HPRT1(NM_000194.3):c.77A>C (p.N26T) - HPRT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.77A>C r.(?) p.(Asn26Thr) Unknown - VUS g.133607438A>C - HPRT1(NM_000194.2):c.77A>C (p.(Asn26Thr)), HPRT1(NM_000194.3):c.77A>C (p.N26T) - HPRT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.131A>G r.(?) p.(Asp44Gly) Unknown - VUS g.133607492A>G g.134473462A>G HPRT1(NM_000194.3):c.131A>G (p.D44G) - HPRT1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134+6_134+9del r.(=) p.(=) Unknown - likely benign g.133607501_133607504del g.134473471_134473474del HPRT1(NM_000194.2):c.134+6_134+9delTAAG, HPRT1(NM_000194.3):c.134+6_134+9delTAAG - HPRT1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134+6_134+9del r.(=) p.(=) Unknown - likely benign g.133607501_133607504del - HPRT1(NM_000194.2):c.134+6_134+9delTAAG, HPRT1(NM_000194.3):c.134+6_134+9delTAAG - HPRT1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.135-121dup r.(=) p.(=) Unknown - VUS g.133609090dup g.134475060dup - - HPRT1_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.135-101G>A r.(=) p.(=) Maternal (inferred) - VUS g.133609110G>A g.134475080= - - HPRT1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.135-101G>A r.(=) p.(=) Maternal (inferred) - VUS g.133609110G>A g.134475080= - - HPRT1_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.142C>G r.(?) p.(Arg48Gly) Unknown - likely pathogenic g.133609218C>G - - - HPRT1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.143G>A r.(?) p.(Arg48His) Unknown - pathogenic g.133609219G>A g.134475189G>A HPRT1(NM_000194.3):c.143G>A (p.R48H) - HPRT1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.151C>T r.(?) p.(Arg51Ter) Unknown - pathogenic g.133609227C>T g.134475197C>T HPRT1(NM_000194.3):c.151C>T (p.R51*) - HPRT1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.152G>A r.(?) p.(Arg51Gln) Unknown - benign g.133609228G>A g.134475198G>A HPRT1(NM_000194.2):c.152G>A (p.R51Q) - HPRT1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.169A>G r.(?) p.(Met57Val) Unknown - VUS g.133609245A>G g.134475215A>G HPRT1(NM_000194.3):c.169A>G (p.M57V) - HPRT1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.191C>A r.(?) p.(Ala64Asp) Unknown - pathogenic g.133609267C>A g.134475237C>A HPRT1(NM_000194.3):c.191C>A (p.A64D) - HPRT1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.206A>G r.(?) p.(Lys69Arg) Unknown - VUS g.133609282A>G g.134475252A>G HPRT1(NM_000194.3):c.206A>G (p.K69R) - HPRT1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.209G>A r.(?) p.(Gly70Glu) Unknown - pathogenic g.133609285G>A g.134475255G>A HPRT1(NM_000194.3):c.209G>A (p.G70E) - HPRT1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.238G>T r.(?) p.(Asp80Tyr) Unknown ACMG likely pathogenic g.133609314G>T g.134475284G>T - - HPRT1_000042 - - - - Germline yes - - - - DNA SEQ blood - HPRT-related gout - - - F - Germany - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.305T>C r.(?) p.(Leu102Pro) Unknown - VUS g.133609381T>C - - - HPRT1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.319-8_319-7dup r.(=) p.(=) Unknown - benign g.133620487_133620488dup g.134486457_134486458dup HPRT1(NM_000194.3):c.319-8_319-7dupTT - HPRT1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.319-7del r.(=) p.(=) Unknown - benign g.133620488del g.134486458del HPRT1(NM_000194.3):c.319-7delT - HPRT1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.319-7del r.(=) p.(=) Unknown - benign g.133620488del g.134486458del HPRT1(NM_000194.3):c.319-7delT - HPRT1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.319-7dup r.(=) p.(=) Maternal (inferred) - VUS g.133620488dup g.134486458dup - - HPRT1_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.319-7dup r.(=) p.(=) Unknown - likely benign g.133620488dup g.134486458dup HPRT1(NM_000194.3):c.319-6delAinsTA, HPRT1(NM_000194.3):c.319-7dupT - HPRT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.319-7dup r.(=) p.(=) Unknown - benign g.133620488dup g.134486458dup HPRT1(NM_000194.3):c.319-6delAinsTA, HPRT1(NM_000194.3):c.319-7dupT - HPRT1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.319-7dup r.(=) p.(=) Unknown - benign g.133620488dup - HPRT1(NM_000194.3):c.319-6delAinsTA, HPRT1(NM_000194.3):c.319-7dupT - HPRT1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.361G>C r.(?) p.(Asp121His) Unknown - VUS g.133620537G>C g.134486507G>C HPRT1(NM_000194.2):c.361G>C (p.D121H) - HPRT1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.387T>A r.(?) p.(Asn129Lys) Unknown - pathogenic g.133624220T>A g.134490190T>A HPRT1(NM_000194.3):c.387T>A (p.N129K) - HPRT1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.480C>T r.(?) p.(Val160=) Unknown - likely benign g.133627615C>T - HPRT1(NM_000194.2):c.480C>T (p.V160=) - HPRT1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.485+291A>G r.(=) p.(=) Maternal (inferred) - VUS g.133627911A>G g.134493881A>G - - HPRT1_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.486-1G>A r.spl? p.? Parent #1 - pathogenic g.133632419G>A g.134498389G>A - - HPRT1_000035 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs398123241 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.500G>C r.(?) p.(Arg167Thr) Unknown - pathogenic g.133632434G>C g.134498404G>C HPRT1(NM_000194.3):c.500G>C (p.R167T) - HPRT1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505C>G r.(?) p.(Pro169Ala) Unknown - VUS g.133632439C>G g.134498409C>G HPRT1(NM_000194.2):c.505C>G (p.(Pro169Ala)) - HPRT1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.532+1G>A r.spl? p.? Unknown - pathogenic g.133632467G>A g.134498437G>A HPRT1(NM_000194.3):c.532+1G>A - HPRT1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7i c.532+5G>A r.spl p.? Unknown - likely pathogenic g.133632471G>A g.134498441G>A - - HPRT1_000039 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2482 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. - c.601G>T r.(?) p.(Asp201Tyr) Unknown - pathogenic g.133632706G>T g.134498676G>T HPRT1(NM_000194.3):c.601G>T (p.D201Y) - HPRT1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.609+5_609+8del r.(=) p.(=) Unknown - VUS g.133632719_133632722del g.134498689_134498692del - - HPRT1_000001 Authors description: chrX:g.133460381_133460384delGTAA; not known correct genotype - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 8i_9 c.610-190_*264delinsCTGCTTTTACTACTGTAAA r.? p.? Maternal (confirmed) - pathogenic (recessive) g.133633870_133634371delinsCTGCTTTTACTACTGTAAA g.134499840_134500341delinsCTGCTTTTACTACTGTAAA - - HPRT1_000041 - PubMed: Boone 2010 - - Germline - - - - - DNA arrayCGH, PCR, SEQ - - LNS Pat8 PubMed: Boone 2010 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - 1 Johan den Dunnen
-?/. - c.610-5T>A r.spl? p.? Unknown - likely benign g.133634055T>A g.134500025T>A HPRT1(NM_000194.2):c.610-5T>A, HPRT1(NM_000194.3):c.610-5T>A - HPRT1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.610-5T>A r.spl? p.? Unknown - VUS g.133634055T>A - HPRT1(NM_000194.2):c.610-5T>A, HPRT1(NM_000194.3):c.610-5T>A - HPRT1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.610-2A>T r.610_626del p.? Maternal (inferred) - likely pathogenic g.133634058A>T g.134500028A>T HPRT1 intron 8, IVS8-2A>T, chrX:133461724A>T (r.610_626del on cDNA level) - HPRT1_000040 causative, hemizygous PubMed: Bell 2011 - - Germline ? - - - - DNA, RNA SEQ-NG blood - retinal disease NA01899 PubMed: Bell 2011 - ? - - - - - - - 1 LOVD
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