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.

119 entries on 2 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.1226A>G r.(?) p.(Asn409Ser) Unknown - VUS g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - VUS g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - VUS g.155205634T>C g.155235843T>C - - GBA_000005 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - pathogenic g.155205634T>C g.155235843T>C GBA(NM_000157.3):c.1226A>G (p.(Asn409Ser)), GBA(NM_000157.4):c.1226A>G (p.N409S), GBA1(NM_001005741.3):c.1226A>G (p.N409S) - GBA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1226A>G r.(?) p.(Asn409Ser) Paternal (confirmed) - likely benign g.155205634T>C g.155235843T>C - - GBA_000005 - PubMed: Helbig 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - trio WES MRT 28195318-FamPat11/12 PubMed: Helbig 2017 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M no United States Jewish-Ashkenazi;Yemen - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - pathogenic g.155205634T>C g.155235843T>C GBA(NM_000157.3):c.1226A>G (p.(Asn409Ser)), GBA(NM_000157.4):c.1226A>G (p.N409S), GBA1(NM_001005741.3):c.1226A>G (p.N409S) - GBA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1226A>G r.(?) p.(Asn409Ser) Unknown - benign g.155205634T>C g.155235843T>C GBA 1:153472258 (hg18) het CM880036 - GBA_000005 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - DNA, RNA SEQ-NG blood - retinal disease NA03575 PubMed: Bell 2011 - ? - - - - - - - 1 LOVD
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C - - GBA_000005 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.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C - - GBA_000005 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.1226A>G r.(?) p.(Asn409Ser) Unknown - pathogenic (dominant) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Sidransky 2009 - - Unknown - 110/779 - - - DNA SEQ - - PD - PubMed: Sidransky 2009 - - - - Ashkenazi Jews - - - - 779 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Both (homozygous) - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SEQ - - GD1 - PubMed: Cormand 1998 Ages 27, 68, 4, 56, 58, 82 - - Spain - - - - - 6 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - 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.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - 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.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 Ages 31 and 27 - - Spain - - - - - 2 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 unknown variant 2nd chromosome PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 unknown variant 2nd chromosome PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Sidransky 2009 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Sidransky 2009 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 Affected brother (46y) with splenomegaly, hepatomegaly, thrombocytopenia, and pingueculae. - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 Affected sibling (23 y) with same symptoms plus bone disease. - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Cormand 1998 - - Unknown - - - - - DNA SSCA skin , peripheral blood leukocytes, spleen - GD1 - PubMed: Cormand 1998 - - - Spain - - - - - 1 Jimena Urbano
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #2 - pathogenic (recessive) g.155205634T>C g.155235843T>C 5841G - GBA_000005 - PubMed: Latham 1991 - - Germline - - - - - DNA SEQ - - GD1 MSM50 PubMed: Latham 1991 - - - United States Greece - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #2 - pathogenic (recessive) g.155205634T>C g.155235843T>C 5841G - GBA_000005 - PubMed: Latham 1991 - - Germline - - - - - DNA SEQ - - GD1 MSM53 PubMed: Latham 1991 - - - United States jew-Sephardic;jew-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.1226A>G r(?) p.(Asn409Ser) Parent #2 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G - GBA_000005 - PubMed: Beutler 1993 - - Germline - - - - - DNA SEQ - - GD Pat3 PubMed: Beutler 1993 - - - United States jew - - - - 1 Johan den Dunnen
+/. - c.1226A>G r(?) p.(Asn409Ser) Parent #2 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G - GBA_000005 - PubMed: Beutler 1993 - - Germline - - - - - DNA SEQ - - GD Pat4 PubMed: Beutler 1993 - - - United States white;Europe - - - - 1 Johan den Dunnen
+/. - c.1226A>G r(?) p.(Asn409Ser) Parent #2 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G - GBA_000005 - PubMed: Beutler 1993 - - Germline - - - - - DNA SEQ - - GD Pat7 PubMed: Beutler 1993 - - - United States jew - - - - 1 Johan den Dunnen
+/. - c.1226A>G r(?) p.(Asn409Ser) Parent #2 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G - GBA_000005 - PubMed: Beutler 1993 - - Germline - - - - - DNA SEQ - - GD Pat9 PubMed: Beutler 1993 - - - United States white;Europe - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G - GBA_000005 - PubMed: Zimran 1990 - - Germline - - - - - DNA SEQ, Southern - - GD1 PatDW PubMed: Zimran 1990 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.1226A>G r(?) p.(Asn409Ser) Both (homozygous) - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G/1226G - GBA_000005 - PubMed: Beutler 1991, PubMed: Beutler 1992 - - Germline - 152/200 chromosomes GD - - - DNA SEQ - - GD - PubMed: Beutler 1991, PubMed: Beutler 1992 analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (54 cases with genotype) - - United States jew - - - - 54 Johan den Dunnen
+/. - c.1226A>G r(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G/84GG - GBA_000005 - PubMed: Beutler 1991, PubMed: Beutler 1992 - - Germline - 152/200 chromosomes GD - - - DNA SEQ - - GD - PubMed: Beutler 1991, PubMed: Beutler 1992 analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (25 cases with genotype) - - United States jew - - - - 25 Johan den Dunnen
+/. - c.1226A>G r(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G/IVS2+1G>A - GBA_000005 - PubMed: Beutler 1991, PubMed: Beutler 1992 - - Germline - 152/200 chromosomes GD - - - DNA SEQ - - GD - PubMed: Beutler 1991, PubMed: Beutler 1992 analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (5 cases with genotype) - - United States jew - - - - 5 Johan den Dunnen
+/. - c.1226A>G r(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G/1448C - GBA_000005 - PubMed: Beutler 1991, PubMed: Beutler 1992 - - Germline - 152/200 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.1226A>G r(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G/1297T - GBA_000005 - PubMed: Beutler 1991, PubMed: Beutler 1992 - - Germline - 152/200 chromosomes GD - - - DNA SEQ - - GD - PubMed: Beutler 1991, PubMed: Beutler 1992 analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (3 cases with genotype) - - United States jew - - - - 3 Johan den Dunnen
+/. - c.1226A>G r(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G/XOVR - GBA_000005 - PubMed: Beutler 1991, PubMed: Beutler 1992 - - Germline - 152/200 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.1226A>G r(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G/751C - GBA_000005 - PubMed: Beutler 1991, PubMed: Beutler 1992 - - Germline - 152/200 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.1226A>G r(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G/? - GBA_000005 no variant 2nd chromosome PubMed: Beutler 1991, PubMed: Beutler 1992 - - Germline - 152/200 chromosomes GD - - - DNA SEQ - - GD - PubMed: Beutler 1991, PubMed: Beutler 1992 analysis 71 cases with genotype GD; analysis 97 cases with genotype GD (2 cases with genotype) - - United States jew - - - - 2 Johan den Dunnen
+/. - c.1226A>G r(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G - GBA_000005 - PubMed: Beutler 1995 - - Germline - - - - - DNA SEQ - - GD Pat1 PubMed: Beutler 1995 - - - - jew-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.1226A>G r(?) p.(Asn409Ser) Both (homozygous) - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G - GBA_000005 - PubMed: Beutler 1995 - - Germline - - - - - DNA SEQ - - GD Pat3 PubMed: Beutler 1995 - - - - Scotland;Wales - - - - 1 Johan den Dunnen
+/. - c.1226A>G r(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G - GBA_000005 - PubMed: Beutler 1995 - - Germline - - - - - DNA SEQ - - GD Pat4 PubMed: Beutler 1995 - - - - Scotland;Wales - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Walley 1995 - - Germline - - - - - DNA SEQ - - GD Pat2 PubMed: Walley 1995 - M - United Kingdom (Great Britain) Jew-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Walley 1995 - - Germline - - - - - DNA SEQ - - GD Pat3 PubMed: Walley 1995 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #2 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G - GBA_000005 - PubMed: Beutler 1994 - - Germline - - - - - DNA SEQ - - GD Pat1 PubMed: Beutler 1994 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #2 - pathogenic (recessive) g.155205634T>C g.155235843T>C 1226G - GBA_000005 - PubMed: Beutler 1994 - - Germline - - - - - DNA SEQ - - GD Pat2 PubMed: Beutler 1994 - - - United States jew - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Both (homozygous) - pathogenic (recessive) g.155205634T>C g.155235843T>C - - GBA_000005 - PubMed: Tsuji 1988 - - Germline yes - - - - DNA SEQ - - GD patient PubMed: Tsuji 1988 2-generation family, 2 affected brothers, unaffected heterozygous parents/relatives M - United States jew - - - - 2 Johan den Dunnen
+/. - c.1226A>G r.1226a>g p.Asn409Ser Parent #2 - pathogenic (recessive) g.155205634T>C 9.155235843T>C 5841G - GBA_000005 - PubMed: Theophilus 1989, PubMed: Latham 1990 - - Germline - - - - - DNA, RNA DGGE, RT-PCR, SEQ - - GD Pat52 PubMed: Theophilus 1989 - - - United States jew-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #2 - pathogenic (recessive) g.155205634T>C g.155235843T>C 5841G - GBA_000005 - PubMed: Theophilus 1989 - - Germline - - - - - DNA DGGE, SEQ - - GD Pat41 PubMed: Theophilus 1989 - - - United States Greece - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Amaral 1996 - - Germline - - - - - DNA SSCA, SEQ - - GD Pat1 PubMed: Amaral 1996 - F - Portugal - - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.1226a>g p.Asn409Ser Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C - - GBA_000005 - PubMed: Choy 1994 - - Germline - - - - - DNA SEQ - - GD patient PubMed: Choy 1994 - F - Cambodia France;Finland;Ukraine - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Tuteja 1994 - - Germline - - - - - DNA RFLP, SEQ - - GD patient PubMed: Tuteja 1994 - - - Italy Sardinia - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C Pv1.1- allele - GBA_000005 - PubMed: Beutler 1992 - - Germline - - - - - DNA SEQ - - GD PatMJ PubMed: Beutler 1992 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Paternal (confirmed) - pathogenic (recessive) g.155205634T>C g.155235843T>C - - GBA_000005 - PubMed: Beutler 1994 - - Germline yes - - - - DNA SEQ, Southern - - GD twins PubMed: Beutler 1994 2-generation family, affected twin sisters, unaffected heterozygous parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat1 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat2 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat3 PubMed: Pomponio 2005 - - - Colombia Europe;Mestizo - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat4 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat5 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Both (homozygous) - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat6 PubMed: Pomponio 2005 - - - Colombia Mestizo - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat7 PubMed: Pomponio 2005 family, affected sister/brother - - Colombia Hispanic - - - - 2 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat8 PubMed: Pomponio 2005 brother - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat9 PubMed: Pomponio 2005 - - - Colombia Mestizo - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat10 PubMed: Pomponio 2005 - - - Colombia Mestizo;American - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat11 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat12 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat14 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat15 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat16 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Both (homozygous) - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat17 PubMed: Pomponio 2005 - - - Colombia - - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat18 PubMed: Pomponio 2005 family, affected brother/sister M - Colombia Hispanic - - - - 2 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat19 PubMed: Pomponio 2005 sister F - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat20 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat21 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat22 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat23 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat24 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N409S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA DHPLC, SEQ - - GD Pat25 PubMed: Pomponio 2005 - - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA4 PubMed: Pomponio 2005 - - - Argentina Spain;Italy - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA5 PubMed: Pomponio 2005 family, dizygotic twins - - Argentina Spain;Poland;Russia;jew-Ashkenazi - - - - 2 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA9 PubMed: Pomponio 2005 - - - Argentina Spain - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA10 PubMed: Pomponio 2005 - - - Argentina Mapuche - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA11 PubMed: Pomponio 2005 family, 3 affected sibs - - Argentina - - - - - 3 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 no variant 2nd chromosome PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatAl4 PubMed: Pomponio 2005 - - - Argentina Italy - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA15 PubMed: Pomponio 2005 - - - Argentina;Paraguay - - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatAl6 PubMed: Pomponio 2005 - - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA17 PubMed: Pomponio 2005 - - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA18 PubMed: Pomponio 2005 family, 2 affected sibs - - Argentina - - - - - 2 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Both (homozygous) - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA21 PubMed: Pomponio 2005 - - - Argentina Poland;Germany;jew-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA25 PubMed: Pomponio 2005 - - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA27 PubMed: Pomponio 2005 - - - Argentina Spain;Italy;Armenia - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA28 PubMed: Pomponio 2005 - - - Argentina - - - - - 1 Johan den Dunnen
+/. - c.1226A>G r.(?) p.(Asn409Ser) Parent #1 - pathogenic (recessive) g.155205634T>C g.155235843T>C N370S - GBA_000005 - PubMed: Pomponio 2005 - - Germline - - - - - DNA SSCA, SEQ - - GD PatA31 PubMed: Pomponio 2005 family, 2 affected sibs - - Argentina Chile - - - - 2 Johan den Dunnen
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