LOVD - Variant listings for GP1BA

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11 entries
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DNA change   Descending

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1_2 c.=
  (Reported 11 times)
- r.= p.= GP1BA_00000 normal 2nd chromosome germline (inherited) yes Ware 1990 DNA SEQ - -
1_2 c.? - r.? p.0 GP1BA_00000 unknown variant 2nd chromosome germline (inherited) yes Ware 1990, (OMIM 0001) DNA SEQ - -
2 c.-5T>C - r.(?) - GP1BA_00008 - germline (inherited) - dbSNP DNA SEQ - -
2 c.217C>T
  (Reported 4 times)
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 - -
2 c.482C>T - r.(?) p.(Thr161Met) GP1BA_00009 - germline (inherited) - dbSNP DNA SEQ - -
2 c.746G>T
  (Reported 2 times)
788T>G (Val233Gly) - p.(Gly249Val) GP1BA_00003 not in 332 control chromosomes germline (inherited) yes Miller 1991, (OMIM 0003) DNA SEQ - -
2 c.793G>T - r.(?) p.(Asp265Tyr) GP1BA_00001 - unknown - - DNA ? - -
2 c.1077G>A
  (Reported 3 times)
1613G>A (Trp343*) r.(?) p.(Trp359*) GP1BA_00004 - germline (inherited) yes Ware 1990, (OMIM 0001) DNA SEQ - AvaII-
2 c.1282_1359del
  (Reported 11 times)
- r.(?) p.(Ser428_Thr453del) GP1BA_00006 D-allele germline (inherited) - Lopez 1992 DNA PCR 1/50 individuals -
2 c.1305C>T - r.(=) p.(=) GP1BA_00007 C'-allele germline (inherited) - Lopez 1992 DNA PCR, SEQ - -
2 c.1321_1359del
  (Reported 17 times)
- r.(?) p.(Ser441_Thr453del) GP1BA_00005 C-allele germline (inherited) - Lopez 1992 DNA PCR, SEQ - -
1 - 11

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.
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