Full data view for gene APRT

Information The variants shown are described using the NM_000485.2 transcript reference sequence.

217 entries on 3 pages. Showing entries 1 - 100.
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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.-2622G>A r.(?) p.(=) Unknown - likely pathogenic g.88880929C>T g.88814521C>T GALNS(NM_001323544.1):c.1505G>A (p.W502*) - APRT_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(-1_*1)? r.? p.? Parent #2 - pathogenic (recessive) g.(88876105_88878308)? g.(88809697_88811900)? - - APRT_000000 gross alteration detected using Southern blotting PubMed: Kamatani 1992 - - Germline - - - 0 - DNA ASO, Southern - - APRTD - PubMed: Kamatani 1992 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #2 - pathogenic (recessive) g.88878307T>C g.88811899T>C - - APRT_000036 - PubMed: Bollee 2010 - - Germline - - - 0 - DNA SEQ - - APRTD Fam6 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #2 - pathogenic (recessive) g.88878307T>C g.88811899T>C - - APRT_000036 - PubMed: Bollee 2010 - - Germline - - - 0 - DNA SEQ - - APRTD Fam9 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Maternal (confirmed) - pathogenic (recessive) g.88878307T>C g.88811899T>C - - APRT_000036 - PubMed: Sahota 1994 - rs930107496 Germline - - - 0 - DNA SEQ - - APRTD SEM1 PubMed: Sahota 1994 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Hungary - - 0 - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (recessive) g.88878307T>C g.88811899T>C - - APRT_000036 - PubMed: Harambat 2012 - - Germline yes - - 0 - DNA SEQ - - APRTD Pat19 PubMed: Harambat 2012 family, 3 affected F - France - - 0 - - 3 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (recessive) g.88878307T>C g.88811899T>C - - APRT_000036 - PubMed: Harambat 2012 - - Germline yes - - 0 - DNA SEQ - - APRTD Pat20 PubMed: Harambat 2012 - F - France - - 0 - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (recessive) g.88878307T>C g.88811899T>C - - APRT_000036 - PubMed: Harambat 2012 - - Germline yes - - 0 - DNA SEQ - - APRTD Pat21 PubMed: Harambat 2012 - F - France - - 0 - - 1 Johan den Dunnen
+/. - c.1A>G r.(?) p.0? Parent #1 - pathogenic (recessive) g.88878307T>C g.88811899T>C - - APRT_000036 - PubMed: Ikeda 2012 - - Germline - - - 0 - DNA SEQ - - APRTD patient PubMed: Ikeda 2012 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.88878305C>T g.88811897C>T - - APRT_000035 - PubMed: Bollee 2010 - - Germline - - - 0 - DNA SEQ - - APRTD Fam4 PubMed: Bollee 2010 family, 1 affected - - - Turkey - 0 - - 1 Johan den Dunnen
+/. - c.3G>A r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.88878305C>T g.88811897C>T - - APRT_000035 - PubMed: Harambat 2012 - - Germline - - - 0 - DNA SEQ - - APRTD Pat13 PubMed: Harambat 2012 - M - France - - 0 - - 1 Johan den Dunnen
?/. - c.80+3G>A r.spl? p.? Unknown - VUS g.88878225C>T g.88811817C>T APRT(NM_000485.2):c.80+3G>A - APRT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.82G>C r.(?) p.(Asp28His) Both (homozygous) - pathogenic (recessive) g.88878063C>G g.88811655C>G - - APRT_000064 - PubMed: Rodriguez-Borja 2019 - - Germline - - - 0 - DNA SEQ - - APRTD patient PubMed: Rodriguez-Borja 2019 - F - Spain - - 0 - - 1 Johan den Dunnen
+/. - c.84C>A r.(?) p.(Asp28Glu) Paternal (confirmed) - pathogenic (recessive) g.88878061G>T g.88811653G>T - - APRT_000055 - PubMed: Marra 2012 - - Germline - - - 0 - DNA SEQ - - APRTD PatAP PubMed: Marra 2012 2-generation family, 2 affected sisters, unaffected heterozygous carrier father/relatives M no Italy - - 0 - - 1 Johan den Dunnen
+/. - c.84C>A r.(?) p.(Asp28Glu) Parent #1 - pathogenic (recessive) g.88878061G>T g.88811653G>T - - APRT_000055 - PubMed: Harambat 2012 - - Germline - - - 0 - DNA SEQ - - APRTD Pat18 PubMed: Harambat 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. - c.98T>C r.(?) p.(Leu33Pro) Maternal (confirmed) - pathogenic (recessive) g.88878047A>G g.88811639A>G - - APRT_000053 APRT activity 0.015 PubMed: Nozue 2011 - - Germline - - - 0 - DNA SEQ - - APRTD patient PubMed: Nozue 2011 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.119G>C r.(?) p.(Arg40Pro) Both (homozygous) - pathogenic (recessive) g.88878026C>G g.88811618C>G 282G>C - APRT_000034 - PubMed: Bollee 2010 - - Germline - - - 0 - DNA SEQ - - APRTD Fam19 PubMed: Bollee 2010 family, 1 affected - - - Morocco - 0 - - 1 Johan den Dunnen
+/. - c.160C>G r.(?) p.(His54Asp) Parent #1 - pathogenic (recessive) g.88877985G>C g.88811577G>C 195G>C (His54Asp) - APRT_000062 variant 2nd chromosome unknown, could not access paper PubMed: Cochran 2018 - - Germline - - - 0 - DNA SEQ - - APRTD patient PubMed: Cochran 2018 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 2i_3 c.184_187+22del r.spl? p.? Maternal (inferred) - pathogenic (recessive) g.88877940_88877965del g.88811532_88811557del g.347_372del26 - APRT_000056 - PubMed: Marra 2012 - - De novo - - - 0 - DNA SEQ - - APRTD PatAP PubMed: Marra 2012 2-generation family, 2 affected sisters, unaffected heterozygous carrier father/relatives M no Italy - - 0 - - 1 Johan den Dunnen
+/. - c.184_187+22del r.spl p.? Parent #2 - pathogenic (recessive) g.88877940_88877965del g.88811532_88811557del g.347_372del26 - APRT_000056 - PubMed: Harambat 2012 - - Germline - - - 0 - DNA SEQ - - APRTD Pat18 PubMed: Harambat 2012 - M - France - - 0 - - 1 Johan den Dunnen
-/. 2i c.188-349C>G r.= p.= Both (homozygous) - benign g.88877313G>C g.88810905G>C - - APRT_000040 - PubMed: Hidaka 1988 - - Germline - - TaqI- 0 - DNA, RNA RT-PCR, SEQ - - APRTD WR2 PubMed: Hidaka 1988 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. 2i_3 c.188-145_296delinsTTCCCTGA r.spl? p.? Both (homozygous) - pathogenic (recessive) g.88876856_88877109delinsTCAGGGAA g.88810448_88810701delinsTCAGGGAA - - APRT_000054 APRT activity 0.0 PubMed: Di Pietro 2007 - - Germline - - - 0 - DNA SEQ - - APRTD patient PubMed: Di Pietro 2007 - M - Italy - - 0 - - 1 Johan den Dunnen
+/. - c.188-145_296delinsTTCCCTGA r.spl? p.? Both (homozygous) - pathogenic (recessive) g.88876856_88877109delinsTCAGGGAA g.88810448_88810701delinsTCAGGGAA - - APRT_000054 - PubMed: Perruzza 2008 - - Germline - - - 0 - DNA SEQ - - APRTD Pat1/2 PubMed: Perruzza 2008 2-generation family, 2 affected nephews, unaffected heterozygous carrier parents/relatives M - Italy - - 0 - - 1 Johan den Dunnen
+/. 2i_3 c.188-145_296delinsTTCCCTGA r.spl? p.? Parent #2 - pathogenic (recessive) g.88876856_88877109delinsTCAGGGAA g.88810448_88810701delinsTCAGGGAA - - APRT_000054 - PubMed: Menardi 1997 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - APRTD PatB PubMed: Menardi 1997 - - - Austria - - 0 - - 1 Johan den Dunnen
+/. 2i c.188-3C>G r.0 p.0 Both (homozygous) - pathogenic (recessive) g.88876967G>C g.88810559G>C IVS2−3c>g - APRT_000058 APRT activity was undetectable PubMed: Micheli 2010 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - APRTD patient PubMed: Micheli 2010 - M - Italy white - 0 - - 1 Johan den Dunnen
+/. - c.188G>A r.(?) p.(Gly63Asp) Both (homozygous) - pathogenic (recessive) g.88876964C>T g.88810556C>T 1344G>A - APRT_000033 - PubMed: Bollee 2010 - - Germline - - - 0 - DNA SEQ - - APRTD Fam23 PubMed: Bollee 2010 family, 1 affected - - - Lebanon - 0 - - 1 Johan den Dunnen
+/. - c.188G>A r.(?) p.(Gly63Asp) Both (homozygous) - pathogenic (recessive) g.88876964C>T g.88810556C>T - - APRT_000033 - PubMed: Kaartinen 2014 - - Germline - - - 0 - DNA SEQ - - APRTD patient PubMed: Kaartinen 2014 - M - Finland Middle East, white - 0 - - 1 Johan den Dunnen
+/. - c.188G>A r.(?) p.(Gly63Asp) Both (homozygous) - pathogenic (recessive) g.88876964C>T g.88810556C>T - - APRT_000033 - PubMed: Li 2019 - - Germline - - - 0 - DNA SEQ - - APRTD case2 PubMed: Li 2019 - F - Lebanon white - 0 - - 1 Johan den Dunnen
+/. - c.188G>A r.(?) p.(Gly63Asp) Both (homozygous) - pathogenic (recessive) g.88876964C>T g.88810556C>T - - APRT_000033 - PubMed: Li 2019 - - Germline - - - 0 - DNA SEQ - - APRTD case3 PubMed: Li 2019 - M - Lebanon Lebanon - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Bollee 2010 - - Germline - - - 0 - DNA SEQ - - APRTD Fam22 PubMed: Bollee 2010 family, 1 affected - - - Spain - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A - - APRT_000032 - PubMed: Chen 1991 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD FamPatVI-HH PubMed: Chen 1991 7-generation family, 3 affected (2F, M) M - Iceland - - 0 - - 3 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A - - APRT_000032 no APRT enzyme activity PubMed: Chen 1991 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD FamPatVII-AJ PubMed: Chen 1991 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A - - APRT_000032 - PubMed: Chen 1991 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD FamPatVII-HS PubMed: Chen 1991 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A - - APRT_000032 - PubMed: Chen 1991 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD PJ PubMed: Chen 1991 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A - - APRT_000032 - PubMed: Chen 1991 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD HE PubMed: Chen 1991 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A - - APRT_000032 - PubMed: Chen 1991 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD SB PubMed: Chen 1991 - F - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat1 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat2 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat3 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat4 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat5 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat6 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat7 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat8 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat9 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat10 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat11 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat12 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat13 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat14 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat15 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat16 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat17 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat18 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat19 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat20 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat21 PubMed: Edvardsson 2001 - F - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat22 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A 1350A>T - APRT_000032 - PubMed: Edvardsson 2001 - rs104894506 Germline - - - 0 - DNA SEQ - - APRTD Pat23 PubMed: Edvardsson 2001 - M - Iceland - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Both (homozygous) - pathogenic (recessive) g.88876958T>A g.88810550T>A - - APRT_000032 - PubMed: Harambat 2012 - - Germline - - - 0 - DNA SEQ - - APRTD Pat5 PubMed: Harambat 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Parent #1 - pathogenic (recessive) g.88876958T>A g.88810550T>A - - APRT_000032 - PubMed: Harambat 2012 - - Germline - - - 0 - DNA SEQ - - APRTD Pat16 PubMed: Harambat 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. - c.194A>T r.(?) p.(Asp65Val) Unknown - pathogenic (recessive) g.88876958T>A g.88810550T>A - - APRT_000032 - PubMed: Huq 2018 - - Germline - - - 0 - DNA SEQ - - APRTD - PubMed: Huq 2018 - - - Australia - - 0 - - 1 Johan den Dunnen
+/. - c.199C>T r.(?) p.(Arg67*) Parent #2 - pathogenic (recessive) g.88876953G>A g.88810545G>A 1355C>T - APRT_000031 - PubMed: Bollee 2010 - - Germline - - - 0 - DNA SEQ - - APRTD Fam14 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - 1 Johan den Dunnen
+/. - c.200G>A r.(?) p.(Arg67Gln) Both (homozygous) - pathogenic (recessive) g.88876952C>T g.88810544C>T 1359G>A - APRT_000048 - PubMed: Taniguchi 2004 - - Germline - - - 0 - DNA SEQ - - APRTD PatA PubMed: Taniguchi 2004 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.200G>A r.(?) p.(Arg67Gln) Parent #1 - pathogenic (recessive) g.88876952C>T g.88810544C>T - - APRT_000048 - PubMed: Lau 2019 - rs762509151 Germline yes - - 0 - DNA SEQ - - APRTD patient PubMed: Lau 2019 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Hong Kong China - 0 - - 2 Johan den Dunnen
+/. - c.250G>A r.(?) p.(Val84Met) Parent #2 - pathogenic (recessive) g.88876902C>T g.88810494C>T 1453G>A - APRT_000050 - PubMed: Taniguchi 2004 - rs200392753 Germline - - - 0 - DNA SEQ - - APRTD PatC PubMed: Taniguchi 2004 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.258_261dup r.(?) p.(Lys88Profs*23) Both (homozygous) - pathogenic (recessive) g.88876891_88876894dup g.88810483_88810486dup 1417-1420dupCCGA - APRT_000045 - PubMed: Kamatani 1992 - - Germline - - - 0 - DNA SEQ - - APRTD WR182 PubMed: Kamatani 1992 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.258_261dup r.(?) p.(Lys88Profs*23) Parent #2 - pathogenic (recessive) g.88876891_88876894dup g.88810483_88810486dup APRT*Q0 - APRT_000045 - PubMed: Kamatani 1992 - - Germline - - - 0 - DNA ASO - - APRTD - PubMed: Kamatani 1992 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.258_261dup r.(?) p.(Lys88Profs*23) Both (homozygous) - pathogenic (recessive) g.88876891_88876894dup g.88810483_88810486dup APRT*Q0 - APRT_000045 - PubMed: Kamatani 1992 - - Germline - - - 0 - DNA ASO - - APRTD - PubMed: Kamatani 1992 3 unrelated cases - - Japan - - 0 - - 3 Johan den Dunnen
+/. - c.258_261dup r.(?) p.(Lys88Profs*23) Parent #1 - pathogenic (recessive) g.88876891_88876894dup g.88810483_88810486dup APRT*Q0 - APRT_000045 unknown variant 2nd chromosome PubMed: Kamatani 1992 - - Germline - - - 0 - DNA ASO - - APRTD - PubMed: Kamatani 1992 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.258_261dup r.(?) p.(Lys88Profs*23) Both (homozygous) - pathogenic (recessive) g.88876891_88876894dup g.88810483_88810486dup - - APRT_000045 - PubMed: Higashimoto 1995 - - Germline - 2/6 cases unknown variants - 0 - DNA SEQ - - APRTD - PubMed: Higashimoto 1995 analysis 6 cases not carrying known variantsjap - - Japan - - 0 - - 2 Johan den Dunnen
+/. - c.258_261dup r.(?) p.(Lys88Profs*23) Parent #1 - pathogenic (recessive) g.88876891_88876894dup g.88810483_88810486dup - - APRT_000045 - PubMed: Higashimoto 1995 - - Germline - 1/6 cases unknown variants - 0 - DNA SEQ - - APRTD - PubMed: Higashimoto 1995 analysis 6 cases not carrying known variants - - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.259C>T r.(?) p.(Arg87*) Both (homozygous) - pathogenic (recessive) g.88876893G>A g.88810485G>A 1415C>T - APRT_000047 - PubMed: Chen 1993 - rs3169258 Germline - - - 0 - DNA SEQ - - APRTD MAH PubMed: Chen 1993 - - - Pakistan - - 0 - - 1 Johan den Dunnen
+/. - c.280_286del r.(?) p.(Gly94Leufs*41) Paternal (confirmed) - pathogenic (recessive) g.88876869_88876875del g.88810461_88810467del - - APRT_000043 - PubMed: Sahota 1994 - rs776240467 Germline - - - 0 - DNA SEQ - - APRTD SEM1 PubMed: Sahota 1994 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Hungary - - 0 - - 1 Johan den Dunnen
+/. - c.286_287del r.(?) p.(Thr96Serfs*13) Both (homozygous) - pathogenic (recessive) g.88876866_88876867del g.88810458_88810459del 1442_1443delAC - APRT_000030 - PubMed: Bollee 2010 - - Germline - - - 0 - DNA SEQ - - APRTD Fam24 PubMed: Bollee 2010 family, 1 affected - - - Portugal - 0 - - 1 Johan den Dunnen
+/. - c.286_287del r.(?) p.(Thr96Serfs*13) Both (homozygous) - pathogenic (recessive) g.88876866_88876867del g.88810458_88810459del - - APRT_000030 - PubMed: Harambat 2012 - - Germline - - - 0 - DNA SEQ - - APRTD Pat11 PubMed: Harambat 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 3 c.289_290del r.(?) p.(Leu97Valfs*12) Both (homozygous) - pathogenic g.88876864_88876865del g.88810456_88810457del - - APRT_000019 - - - - Germline/De novo (untested) ? - - 0 - DNA SEQ blood - APRTD SL4569 - - F ? Italy - 73y 0 - kidney transplant 1 Daniela Francesca Giachino
+/. - c.289_290del r.(?) p.(Leu97Valfs*12) Both (homozygous) - pathogenic (recessive) g.88876864_88876865del g.88810456_88810457del 1443_1444delCT - APRT_000019 - PubMed: Bollee 2010 - - Germline - - - 0 - DNA SEQ - - APRTD Fam13 PubMed: Bollee 2010 family, 1 affected - - - Poland - 0 - - 1 Johan den Dunnen
+/. - c.289_290del r.(?) p.(Leu97Valfs*12) Parent #2 - pathogenic (recessive) g.88876864_88876865del g.88810456_88810457del 1443_1444delCT - APRT_000019 - PubMed: Bollee 2010 - - Germline - - - 0 - DNA SEQ - - APRTD Fam5 PubMed: Bollee 2010 family, 1 affected - - - France - 0 - - 1 Johan den Dunnen
+/. - c.289_290del r.(?) p.(Leu97Valfs*12) Parent #2 - pathogenic (recessive) g.88876864_88876865del g.88810456_88810457del 1443_1444delCT - APRT_000019 - PubMed: Bollee 2010 - - Germline - - - 0 - DNA SEQ - - APRTD Fam18 PubMed: Bollee 2010 family, 3 affected - - - France - 0 - - 3 Johan den Dunnen
+/. - c.289_290del r.(?) p.(Leu97Valfs*12) Parent #1 - pathogenic (recessive) g.88876864_88876865del g.88810456_88810457del - - APRT_000019 - PubMed: Harambat 2012 - - Germline - - - 0 - DNA SEQ - - APRTD Pat1 PubMed: Harambat 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. - c.289_290del r.(?) p.(Leu97Valfs*12) Parent #1 - pathogenic (recessive) g.88876864_88876865del g.88810456_88810457del - - APRT_000019 - PubMed: Harambat 2012 - - Germline - - - 0 - DNA SEQ - - APRTD Pat4 PubMed: Harambat 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. - c.294G>A r.294g>a p.Trp98* Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T 1453C>T - APRT_000041 - PubMed: Mimori 1991 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - APRTD WR15 PubMed: Mimori 1991 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T 1453C>T - APRT_000041 - PubMed: Mimori 1991 - - Germline - - - 0 - DNA SEQ - - APRTD WR10 PubMed: Mimori 1991 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T 1453C>T - APRT_000041 - PubMed: Mimori 1991 - - Germline - - - 0 - DNA SEQ - - APRTD WR128 PubMed: Mimori 1991 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T 1453C>T - APRT_000041 - PubMed: Mimori 1991 - - Germline - - - 0 - DNA SEQ - - APRTD WR158 PubMed: Mimori 1991 - - - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T 1449/1450G>A - APRT_000041 - PubMed: Sahota 1990 - - Germline - - - 0 - DNA SEQ - - APRTD ASA1 PubMed: Sahota 1990 - M yes Japan - - 0 - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Parent #1 - pathogenic (recessive) g.88876858C>T g.88810450C>T - - APRT_000041 - PubMed: Sahota 1990 - - Germline - - - 0 - DNA SEQ - - APRTD TAK2 PubMed: Sahota 1990 - M no Japan - - 0 - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Parent #2 - pathogenic (recessive) g.88876858C>T g.88810450C>T APRT*Q0 - APRT_000041 - PubMed: Kamatani 1992 - - Germline - - - 0 - DNA ASO - - APRTD - PubMed: Kamatani 1992 7 unrelated cases - - Japan - - 0 - - 7 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T APRT*Q0 - APRT_000041 - PubMed: Kamatani 1992 - - Germline - - - 0 - DNA ASO - - APRTD - PubMed: Kamatani 1992 11 unrelated cases - - Japan - - 0 - - 11 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Parent #1 - pathogenic (recessive) g.88876858C>T g.88810450C>T APRT*Q0 - APRT_000041 - PubMed: Kamatani 1992 - - Germline - - - 0 - DNA ASO, Southern - - APRTD - PubMed: Kamatani 1992 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Parent #1 - pathogenic (recessive) g.88876858C>T g.88810450C>T 1409G>A - APRT_000041 - PubMed: Taniguchi 2004 - - Germline - - - 0 - DNA SEQ - - APRTD PatC PubMed: Taniguchi 2004 - M - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.294G>A r.(?) p.(Trp98*) Both (homozygous) - pathogenic (recessive) g.88876858C>T g.88810450C>T APRT*Q0 - APRT_000041 - PubMed: Nanmoku 2017 - - Germline - - - 0 - DNA SEQ - - APRTD patient PubMed: Nanmoku 2017 - M - Japan - - 0 - - 1 Johan den Dunnen
-/. - c.297C>T r.297c>u p.= Both (homozygous) - benign g.88876855G>A g.88810447G>A 1456C>T - APRT_000042 - PubMed: Mimori 1991 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - APRTD WR15 PubMed: Mimori 1991 - - - Japan - - 0 - - 1 Johan den Dunnen
-/. - c.297C>T r.(=) p.(=) Both (homozygous) - benign g.88876855G>A g.88810447G>A - - APRT_000042 - PubMed: Sahota 1990 - - Germline - - - 0 - DNA SEQ - - APRTD ASA1 PubMed: Sahota 1990 - M yes Japan - - 0 - - 1 Johan den Dunnen
-/. - c.297C>T r.(=) p.(=) Parent #1 - benign g.88876855G>A g.88810447G>A - - APRT_000042 - PubMed: Sahota 1990 - - Germline - - - 0 - DNA SEQ - - APRTD TAK2 PubMed: Sahota 1990 - M no Japan - - 0 - - 1 Johan den Dunnen
+/. - c.311A>G r.(?) p.(Glu104Gly) Both (homozygous) - pathogenic (recessive) g.88876841T>C g.88810433T>C 1467A>G - APRT_000029 - PubMed: Bollee 2010 - - Germline - - - 0 - DNA SEQ - - APRTD Fam21 PubMed: Bollee 2010 family, 1 affected - - - Senegal - 0 - - 1 Johan den Dunnen
+/. - c.311A>G r.(?) p.(Glu104Gly) Both (homozygous) - pathogenic (recessive) g.88876841T>C g.88810433T>C - - APRT_000029 - PubMed: Harambat 2012 - - Germline - - - 0 - DNA SEQ - - APRTD Pat10 PubMed: Harambat 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. - c.329T>C r.(?) p.(Leu110Pro) Both (homozygous) - pathogenic (recessive) g.88876549A>G g.88810141A>G - - APRT_000044 APRT activity <0.01 of normal PubMed: Sahota 1994 - rs104894508 Germline yes - - 0 - DNA SEQ - - APRTD FamPatSF/BB PubMed: Sahota 1994 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F - Canada - - 0 - - 2 Johan den Dunnen
+/. - c.329T>C r.(?) p.(Leu110Pro) Parent #2 - pathogenic (recessive) g.88876549A>G g.88810141A>G - - APRT_000044 - PubMed: Harambat 2012 - - Germline - - - 0 - DNA SEQ - - APRTD Pat16 PubMed: Harambat 2012 - M - France - - 0 - - 1 Johan den Dunnen
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