LOVD - Variant listings for GP1BA

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-/- 1_2 c.=
    + c.217C>T
- r.= p.= GP1BA_00000 normal 2nd chromosome germline (inherited) yes Ware 1990 DNA SEQ - - - - - - - - - - - - - Bernard-Soulier syndrome (BSS-1A) - - thrombocytopenia, increased mean platelet volume 1 (4) 1 Male familial, autosomal dominant no United States - Miller 1992, Netherlands:Rotterdam
-/- 1_2 c.=
    + c.217C>T
- r.= p.= GP1BA_00000 normal 2nd chromosome germline (inherited) yes Ware 1990 DNA SEQ - - - - - - - - - - - - - Bernard-Soulier syndrome (BSS-1A) - - thrombocytopenia, increased mean platelet volume 1 (4) 1 Female familial, autosomal dominant no United States - Miller 1992, Netherlands:Rotterdam
-/- 1_2 c.=
    + c.217C>T
- r.= p.= GP1BA_00000 normal 2nd chromosome germline (inherited) yes Ware 1990 DNA SEQ - - - - - - - - - - - - - Bernard-Soulier syndrome (BSS-1A) - - thrombocytopenia, increased mean platelet volume 1 (4) 1 Male familial, autosomal dominant no United States - Miller 1992, Netherlands:Rotterdam
-/- 1_2 c.=
    + c.217C>T
- r.= p.= GP1BA_00000 normal 2nd chromosome germline (inherited) yes Ware 1990 DNA SEQ - - - - - - - - - - - - - Bernard-Soulier syndrome (BSS-1A) - - thrombocytopenia, increased mean platelet volume 1 (4) 1 Female familial, autosomal dominant no United States - Miller 1992, Netherlands:Rotterdam
+/? 1_2 c.?
    + c.1077G>A
- r.? p.0 GP1BA_00000 unknown variant 2nd chromosome germline (inherited) yes Ware 1990, (OMIM 0001) DNA SEQ - - - - - - - - - - - - - Bernard-Soulier syndrome (BSS) - - - 1 (1) 1 Male familial, autosomal recessive no United States - Ware 1990, Netherlands:Rotterdam
+/? 2 c.217C>T
    + c.=
259C>T (F57L) r.217c>u p.Leu73Phe GP1BA_00002 not in 266 control chromosomes unknown yes Miller 1992, (OMIM 0004) DNA, RNA RT-PCR, SEQ - - - - - - - - - - - - - Bernard-Soulier syndrome (BSS-1A) - - thrombocytopenia, increased mean platelet volume 1 (4) 1 Male familial, autosomal dominant no United States - Miller 1992, Netherlands:Rotterdam
+/? 2 c.217C>T
    + c.=
259C>T (F57L) r.217c>u p.Leu73Phe GP1BA_00002 not in 266 control chromosomes germline (inherited) yes Miller 1992, (OMIM 0004) DNA, RNA RT-PCR, SEQ - - - - - - - - - - - - - Bernard-Soulier syndrome (BSS-1A) - - thrombocytopenia, increased mean platelet volume 1 (4) 1 Female familial, autosomal dominant no United States - Miller 1992, Netherlands:Rotterdam
+/? 2 c.217C>T
    + c.=
259C>T (F57L) r.217c>u p.Leu73Phe GP1BA_00002 not in 266 control chromosomes germline (inherited) yes Miller 1992, (OMIM 0004) DNA, RNA RT-PCR, SEQ - - - - - - - - - - - - - Bernard-Soulier syndrome (BSS-1A) - - thrombocytopenia, increased mean platelet volume 1 (4) 1 Male familial, autosomal dominant no United States - Miller 1992, Netherlands:Rotterdam
+/? 2 c.217C>T
    + c.=
259C>T (F57L) r.217c>u p.Leu73Phe GP1BA_00002 not in 266 control chromosomes germline (inherited) yes Miller 1992, (OMIM 0004) DNA, RNA RT-PCR, SEQ - - - - - - - - - - - - - Bernard-Soulier syndrome (BSS-1A) - - thrombocytopenia, increased mean platelet volume 1 (4) 1 Female familial, autosomal dominant no United States - Miller 1992, Netherlands:Rotterdam
+/? 2 c.1077G>A
    + c.?
1613G>A (Trp343*) r.(?) p.(Trp359*) GP1BA_00004 - germline (inherited) yes Ware 1990, (OMIM 0001) DNA SEQ - AvaII- - - - - - - - - - - - Bernard-Soulier syndrome (BSS) - - - 1 (1) 1 Male familial, autosomal recessive no United States - Ware 1990, Netherlands:Rotterdam
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Legend: [ GP1BA full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering DNA change: DNA change = description of variant at DNA level, based on a coding DNA reference sequence, following HGVS recommendations; e.g. c.123C>T Legacy numbering: Legacy numbering = variant as reported originally (e.g. 521delT); listed only when different from "Variant/DNA" RNA change: RNA change = description of variant at RNA level, following HGVS recommendations; e.g. r.123c>u, r.? = unknown, r.(?) = RNA not analysed but probably directly transcribed copy of DNA variant, r.spl? = RNA not analysed but variant probably affects splicing Protein change: Protein change = description of variant at protein level, following HGVS recommendations; e.g. p.(Arg345Pro) = (RNA not analysed, change predicted from DNA), p.Arg345Pro (protein change predicted from RNA), p.0 (no protein produced), p.? (unknown effect) GP1BA DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks Genetic_origin: origin of variant; unknown, germline (inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Segregation: indicates whether the variant segregates with the disease (yes), does not segregate with the disease (no) or segregation is unknown (?) Reference: Reference Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site VWF:Ag: VWF:Ag (in IU/dL) (to nearest integer) VWF:Rco: VWF:RCo (in IU/dL) (to nearest integer) VWF:CB: VWF:CB (in IU/dL) (to nearest integer) FVIII:C: FVIII:C (in IU/dL) (to nearest integer) FIX:Ag: FIX:Ag (in IU/dL) (to nearest integer) FIX:C: FIX:C (in IU/dL) (to nearest integer) FVII:Ag: FVII:Ag (in IU/dL) (to the nearest integer) FVII:C: FVII:C (in IU/dL) (to the nearest integer) BS: BS (to nearest integer) Multimer profile - low res: Multimer profile, low resolution Multimer profile - high res: Multimer profile, high resolution Disease: Disease Diagnostic enzyme: Diagnostic enzyme Tissue factor type: Tissue factor type Phenotype/Additional: Phenotype/Additional Affecteds/Ind-Fam: Affecteds # Reported: Number of times this case has been reported Gender: Patient gender Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Geographic origin: Geographic origin of patient Ethnic origin: Ethnic origin of patient Submitter: Reference