Full data view for gene GBA

A Parkinson's disease Mutation Database
Information The variants shown are described using the NM_000157.3 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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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.1448T>C r.(?) p.(Leu483Pro) Unknown - VUS g.155205043A>G g.155235252A>G - - GBA_000006 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1448T>C r.(?) p.(Leu483Pro) Unknown - pathogenic g.155205043A>G g.155235252A>G GBA(NM_000157.3):c.1448T>C (p.(Leu483Pro)), GBA(NM_001005741.2):c.1448T>C (p.L483P), GBA(NM_001005741.3):c.1448T>C (p.L483P), GBA1(NM_001005741.3):... - GBA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1448T>C r.(?) p.(Leu483Pro) Unknown - pathogenic g.155205043A>G g.155235252A>G GBA(NM_000157.3):c.1448T>C (p.(Leu483Pro)), GBA(NM_001005741.2):c.1448T>C (p.L483P), GBA(NM_001005741.3):c.1448T>C (p.L483P), GBA1(NM_001005741.3):... - GBA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1448T>C r.(?) p.(Leu483Pro) Unknown - VUS g.155205043A>G g.155235252A>G GBA(NM_000157.3):c.1448T>C (p.(Leu483Pro)), GBA(NM_001005741.2):c.1448T>C (p.L483P), GBA(NM_001005741.3):c.1448T>C (p.L483P), GBA1(NM_001005741.3):... - GBA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1448T>C r.(?) p.(Leu483Pro) Unknown - pathogenic g.155205043A>G g.155235252A>G GBA(NM_000157.3):c.1448T>C (p.(Leu483Pro)), GBA(NM_001005741.2):c.1448T>C (p.L483P), GBA(NM_001005741.3):c.1448T>C (p.L483P), GBA1(NM_001005741.3):... - GBA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1448T>C r.(?) p.(Leu483Pro) Unknown - pathogenic g.155205043A>G - GBA(NM_000157.3):c.1448T>C (p.(Leu483Pro)), GBA(NM_001005741.2):c.1448T>C (p.L483P), GBA(NM_001005741.3):c.1448T>C (p.L483P), GBA1(NM_001005741.3):... - GBA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #1 - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Unknown - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+?/. - c.1448T>C r.(?) p.(Leu483Pro) Unknown - likely pathogenic (dominant) g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Sidransky 2009 - - Unknown - 9/779 - - - DNA SEQ - - PD - PubMed: Sidransky 2009 - - - - Ashkenazi Jews - - - - 779 Jimena Urbano
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Bossu 2023 - - Germline - - - - - DNA SEQ - - GD patient PubMed: Bossù 2023 - F ? Italy - - - - ERT with intravenous imiglucerase (Cerezyme) 1 Jimena Urbano
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Cormand 1998 - - Germline - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen jimenaur GD2 PatII.1 PubMed: Cormand 1998 - ? - Spain - 00y08m15d - - - 1 Jimena Urbano
+?/. - c.1448T>C r.(?) p.(Leu483Pro) Unknown - likely pathogenic g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Sidransky 2009 - - Unknown - 41/1682 - - - DNA SEQ - - PD - PubMed: Sidransky 2009 - - - - - - - - - 1682 Jimena Urbano
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin, peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 Ages 32, 33, 29, 25, 19, 48, 31, 5, 24, 23, 60 and 3 ? - Spain - - - - - 12 Jimena Urbano
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic g.155205043A>G g.155235252A>G RecNciI - GBA_000006 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 Ages 28, 42 and 13 ? - Spain - - - - - 3 Jimena Urbano
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G 6433C - GBA_000006 - PubMed: Latham 1991 - - Germline - - - - - DNA SEQ - - GD1 MSM45 PubMed: Latham 1991 - - - United States Hispanic - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G 6433C - GBA_000006 - PubMed: Latham 1991 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G 6433C - GBA_000006 - PubMed: Latham 1991 - - Germline - - - - - DNA SEQ - - GD1 MSM48 PubMed: Latham 1991 - - - United States Italy;Ireland - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G 6433C - GBA_000006 - PubMed: Latham 1991 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G 6433C - GBA_000006 - PubMed: Latham 1991 - - Germline - - - - - DNA SEQ - - GD1 MSM49 PubMed: Latham 1991 - - - United States Italy - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G 6433C - GBA_000006 - PubMed: Latham 1991 - - Germline - - - - - DNA SEQ - - GD2 MSM82 PubMed: Latham 1991 - - - United States white - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G 6433C - GBA_000006 - PubMed: Latham 1991 - - Germline - - - - - DNA SEQ - - GD3 MSM61 PubMed: Latham 1991 - - - United States white - - - - 1 Johan den Dunnen
+/. - c.1448T>C r(?) p.(Leu483Pro) Parent #1 - pathogenic (recessive) g.155205043A>G g.155235252A>G 1448C/1504T - GBA_000006 - PubMed: Beutler 1991, PubMed: Beutler 1992 - - Germline - 4/200 chromosomes GD - - - DNA SEQ - - GD - PubMed: Beutler 1991, PubMed: Beutler 1992 analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (1 case with genotype) - - United States jew - - - - 1 Johan den Dunnen
+/. - c.1448T>C r(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G 1226G/1448C - GBA_000006 - PubMed: Beutler 1991, PubMed: Beutler 1992 - - Germline - 4/200 chromosomes GD - - - DNA SEQ - - GD - PubMed: Beutler 1991, PubMed: Beutler 1992 analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (4 cases with genotype) - - United States jew - - - - 4 Johan den Dunnen
+/. - c.1448T>C r(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Kim 1996 - - Germline - - - - - DNA SEQ - - GD Pat3 PubMed: Kim 1996 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L144P - GBA_000006 - PubMed: Kim 1996 - - Germline - - - - - DNA SEQ - - GD Pat1 PubMed: Kim 1996 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L144P - GBA_000006 - PubMed: Kim 1996 - - Germline - - - - - DNA SEQ - - GD Pat2 PubMed: Kim 1996 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L144P - GBA_000006 - PubMed: Kim 1996 - - Germline - - - - - DNA SEQ - - GD Pat4 PubMed: Kim 1996 - M - Korea - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L144P - GBA_000006 - PubMed: Kim 1996 - - Germline - - - - - DNA SEQ - - GD PatYC PubMed: Kim 1996 family, 2 affected sibs F - Taiwan China - - - - 2 Johan den Dunnen
+/. - c.1448T>C r(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L144P - GBA_000006 - PubMed: Kim 1996 - - Germline - - - - - DNA SEQ - - GD PatCC PubMed: Kim 1996 relative M - Taiwan China - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.1448u>C p.Leu483Pro Parent #1 - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Choy 1991, PubMed: Choy 1995 - - Germline - - - - - DNA RT-PCR, SEQ - - GD Pat14;PatBD PubMed: Choy 1991, PubMed: Choy 1995 - - - Canada African-Amereican - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #1 - pathogenic (recessive) g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Ida 1997 - - Germline - 41/94 chromosomes GD - - - DNA SSCA, SEQ - - GD Pat1 PubMed: Ida 1997 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #1 - pathogenic (recessive) g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Ida 1997 - - Germline - 41/94 chromosomes GD - - - DNA SSCA, SEQ - - GD Pat2 PubMed: Ida 1997 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #1 - pathogenic (recessive) g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Ida 1997 - - Germline - 41/94 chromosomes GD - - - DNA SSCA, SEQ - - GD Pat4 PubMed: Ida 1997 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #1 - pathogenic (recessive) g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Ida 1997 - - Germline - 41/94 chromosomes GD - - - DNA SSCA, SEQ - - GD Pat6 PubMed: Ida 1997 - - - Japan - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Unknown - pathogenic (recessive) g.155205043A>G g.155235252A>G 1448C - GBA_000006 - PubMed: Ida 1997 - - Germline - 41/94 chromosomes GD - - - DNA SSCA, SEQ - - GD - PubMed: Ida 1997 analysis 47 cases Gaucher disease - - Japan - - - - - 37 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G 6433T>C (L444P) - GBA_000006 - PubMed: Kawame 1991 - - Germline - - - - - DNA SEQ - - GD patient PubMed: Kawame 1991 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Maternal (inferred) - pathogenic (recessive) g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Walley 1995 - - Germline - - - - - DNA SEQ - - GD Pat1 PubMed: Walley 1995 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.1448u>c p.Leu483Pro Parent #1 - pathogenic (recessive) g.155205043A>G g.155235252A>G NciI (6463T>C) - GBA_000006 - PubMed: Eyal 1990 - - Germline - - NciI+ - - DNA, RNA RT-PCR, SEQ - - GD IS52 PubMed: Eyal 1990 - - - Israel - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G 1448C - GBA_000006 - PubMed: Beutler 1994 - - Germline - - - - - DNA SEQ - - GD Pat4 PubMed: Beutler 1994 aborted fetus - - United States - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G 1448C - GBA_000006 - PubMed: Beutler 1994 - - Germline - - - - - DNA SEQ - - GD Pat3 PubMed: Beutler 1994 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G T>C L444P - GBA_000006 - PubMed: Laubscher 1994 - - Germline - - - - - DNA DGGE, SEQ - - GD PatSB PubMed: Laubscher 1994 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G 6433C - GBA_000006 - PubMed: Theophilus 1989 - - Germline - - - - - DNA DGGE, SEQ - - GD Pat44 PubMed: Theophilus 1989 - - - United States SouthAfrican - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G 6433C - GBA_000006 - PubMed: Theophilus 1989 - - Germline - - - - - DNA DGGE, SEQ - - GD Pat61 PubMed: Theophilus 1989 - - - United States white - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.1448u>c p.Leu483Pro Paternal (confirmed) - pathogenic (recessive) g.155205043A>G g.155235252A>G 5957C;6433C;6468C;6482C (Val394Leu;Leu444Pro;Ala456Pro;Val460=) - GBA_000006 - PubMed: Theophilus 1989, PubMed: Latham 1990 - - Germline - - - - - DNA DGGE, SEQ - - GD Pat74 PubMed: Theophilus 1989, PubMed: Latham 1990 - - - United States jew-Ashkenazi;Ireland - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.1448u>c p.Leu483Pro Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G - T>C (Leu444Pro) GBA_000006 - PubMed: Wigderson 1989 - - Germline - - NciI+ - - DNA, RNA RT-PCR, SEQ - - GD GM1260 PubMed: Wigderson 1989 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G T>C Leu444Pro - GBA_000006 - PubMed: Tsuji 1987 - - Germline - - NciI+ - - DNA RFLP, SEQ - - GD FamPatIII1 PubMed: Tsuji 1987 2-generation family, 1 affected, unaffected heterozygous parents/relatives M - United States - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G T>C Leu444Pro - GBA_000006 - PubMed: Tsuji 1987 - - Germline - - NciI+ - - DNA RFLP - - GD patient PubMed: Tsuji 1987 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G T>C Leu444Pro - GBA_000006 - PubMed: Tsuji 1987 - - Germline - - NciI+ - - DNA RFLP - - GD patient PubMed: Tsuji 1987 7 unrelated GD cases - - United States - - - - - 7 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #1 - pathogenic (recessive) g.155205043A>G g.155235252A>G T>C Leu444Pro - GBA_000006 no variant 2nd chromosome PubMed: Tsuji 1987 - - Germline - - NciI+ - - DNA RFLP - - GD patient PubMed: Tsuji 1987 4 unrelated GD cases - - United States - - - - - 4 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #1 - pathogenic (recessive) g.155205043A>G g.155235252A>G T>C Leu444Pro - GBA_000006 no variant 2nd chromosome PubMed: Tsuji 1987 - - Germline - - NciI+ - - DNA RFLP - - GD - PubMed: Tsuji 1987 2 unrelated GD cases - - United States - - - - - 2 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #1 - pathogenic (recessive) g.155205043A>G g.155235252A>G T>C Leu444Pro - GBA_000006 no variant 2nd chromosome PubMed: Tsuji 1987 - - Germline - - NciI+ - - DNA RFLP - - GD - PubMed: Tsuji 1987 4 unrelated GD cases - - United States - - - - - 4 Johan den Dunnen
+/. - c.1448T>C r.1448u>c p.Leu483Pro Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G Leu444Pro;Ala456Pro;Val460= - GBA_000006 - PubMed: Hong 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GD GM4394 PubMed: Eyal 1990, PubMed: Hong 1990 - - - Israel - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.1448u>c p.Leu483Pro Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G 6433C - GBA_000006 - PubMed: Latham 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GD MSM79 PubMed: Latham 1990 - - - United States Sweden - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.1448u>c p.Leu483Pro Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G 6433C - GBA_000006 - PubMed: Latham 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GD MSM80 PubMed: Latham 1990 - - - United States Sweden - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.1448u>c p.Leu483Pro Paternal (inferred) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Latham 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GD GM877 PubMed: Latham 1990 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.1448u>c p.Leu483Pro Maternal (confirmed) - pathogenic (recessive) g.155205043A>G g.155235252A>G 6433C;6468C;6482C (Leu444Pro;Ala456Pro;Val460=) - GBA_000006 - PubMed: Latham 1990 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - GD GM877 PubMed: Latham 1990 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #1 - pathogenic (recessive) g.155205043A>G g.155235252A>G L483P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat13 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G E355K;L483P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat7 PubMed: Pomponio 2005 family, affected sister/brother - - Colombia Hispanic - - - - 2 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G E355K;L483P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat8 PubMed: Pomponio 2005 brother - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L483P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat13 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G E355K;L483P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat15 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L483P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat18 PubMed: Pomponio 2005 family, affected brother/sister M - Colombia Hispanic - - - - 2 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L483P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat19 PubMed: Pomponio 2005 sister F - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L483P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat23 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L483P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat24 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA4 PubMed: Pomponio 2005 - - - Argentina Spain;Italy - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA18 PubMed: Pomponio 2005 family, 2 affected sibs - - Argentina - - - - - 2 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA42 PubMed: Pomponio 2005 - - - Argentina Spain;Italy - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA45 PubMed: Pomponio 2005 - - - Argentina Spain;Arab - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Parent #2 - pathogenic (recessive) g.155205043A>G g.155235252A>G L444P - GBA_000006 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA19 PubMed: Pomponio 2005 sib - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat1 PubMed: Ankleshwaria 2014 - - - India Gujarat - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat2 PubMed: Ankleshwaria 2014 - - - India Maharashtra - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat4 PubMed: Ankleshwaria 2014 - - - India Maharashtra - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat6 PubMed: Ankleshwaria 2014 - - - India Gujarat - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat8 PubMed: Ankleshwaria 2014 - - - India Maharashtra - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat9 PubMed: Ankleshwaria 2014 - - - India Maharashtra - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat10 PubMed: Ankleshwaria 2014 - - - India Gujarat - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat11 PubMed: Ankleshwaria 2014 - - - India Gujarat - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat12 PubMed: Ankleshwaria 2014 - - - India Maharashtra - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat13 PubMed: Ankleshwaria 2014 - - - India Kerala - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat14 PubMed: Ankleshwaria 2014 - - - India Maharashtra - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat15 PubMed: Ankleshwaria 2014 - - - India Maharashtra - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat16 PubMed: Ankleshwaria 2014 - - - India Kerala - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat17 PubMed: Ankleshwaria 2014 - - - India Maharashtra - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat18 PubMed: Ankleshwaria 2014 - - - India Karnataka - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat21 PubMed: Ankleshwaria 2014 - - - India Maharashtra - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat22 PubMed: Ankleshwaria 2014 - - - India Gujarat - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat23 PubMed: Ankleshwaria 2014 - - - India Maharashtra - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat24 PubMed: Ankleshwaria 2014 - - - India Maharashtra - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat25 PubMed: Ankleshwaria 2014 - - - India Sri Lanka - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat30 PubMed: Ankleshwaria 2014 - - - India Maharashtra - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat31 PubMed: Ankleshwaria 2014 - - - India Gujarat - - - - 1 Johan den Dunnen
+/. - c.1448T>C r.(?) p.(Leu483Pro) Both (homozygous) - pathogenic (recessive) g.155205043A>G g.155235252A>G - - GBA_000006 - PubMed: Ankleshwaria 2014 - - Germline - - - - - DNA SEQ - - GD Pat32 PubMed: Ankleshwaria 2014 - - - India Maharashtra - - - - 1 Johan den Dunnen
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