LOVD - Variant listings for GP1BA

About this overview [Show]

11 entries
entries per page

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

Legacy numbering Hide Legacy numbering column Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein change Hide Protein change column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

Variant remarks Hide Variant remarks column Descending
Ascending

Genetic_origin Hide Genetic_origin column Descending
Ascending

Segregation Hide Segregation column Descending
Ascending

Reference Hide Reference column Descending
Ascending

Template Hide Template column Descending
Ascending

Technique Hide Technique column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

RE-site Hide RE-site column Descending
Ascending
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