LOVD - Variant listings for RAB3GAP2

About this overview [Show]

11 public entries
entries per page


Path. Hide Path. column Descending
Ascending

Template Hide Template column Descending
Ascending

Technique Hide Technique column Descending
Ascending

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein change Hide Protein change column Descending
Ascending

RE Site Hide RE Site column Descending
Ascending

Frequency Hide Frequency column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending

Patient ID Hide Patient ID column Descending
Ascending

Disease Hide Disease column Descending
Ascending

Reference/Submitter Hide Reference/Submitter column Descending
Ascending

Template Hide Template column Descending
Ascending

Technique Hide Technique column Descending
Ascending

Remarks Hide Remarks column Descending
Ascending

# Reported Hide # Reported column Descending
Ascending

Population Hide Population column Descending
Ascending

Gender Hide Gender column Descending
Ascending

Sequence Inheritance Hide Sequence Inheritance column Descending
Ascending

Phenotype Inheritance Hide Phenotype Inheritance column Descending
Ascending

Second PCR Hide Second PCR column Descending
Ascending

CIS Hide CIS column Descending
Ascending

Conserved residue Hide Conserved residue column Descending
Ascending

Related Phenotype Hide Related Phenotype column Descending
Ascending

Unrelated  Phenotype Hide Unrelated  Phenotype column Descending
Ascending
+/+ DNA SEQ 2 c.147G>A
    + c.147G>A
- p.Trp49* - - RAB3GAP2_00006 RAB3GAP2_0084 Micro syndrome - DNA SEQ - 1 Turkish male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 5 c.407_408insT
    + c.407_408insT
- p.Cys137Metfs*16 - - RAB3GAP2_00002 RAB3GAP2_0023 Micro syndrome - DNA SEQ - 1 Pakistani female Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 6 c.499_507delTTCTACACT
    + c.499_507delTTCTACACT
- p.Phe167_Thr169del - - RAB3GAP2_00008 RAB3GAP2_0500 Warburg Micro Syndrome Borck et al. Hum Genet. 2011 Jan;129(1):45-50. DNA SEQ - 1 Turkish - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 7 c.589C>T
    + c.589C>T
- p.Arg197* - - RAB3GAP2_00007 RAB3GAP1_0134 Warburg Micro Syndrome - DNA SEQ - 1 - - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 14 c.1276C>T
    + c.1276C>T
- p.Arg426Cys - - RAB3GAP2_00001 RAB3GAP2_0020 Martsolf syndrome - DNA SEQ - 1 Mexican male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 14 c.1276C>T
    + c.1276C>T
- p.Arg426Cys - - RAB3GAP2_00001 RAB3GAP2_0076 Martsolf syndrome - DNA SEQ - 1 Gambian female Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 14 c.1434G>A
    + c.1434G>A
- p.Trp478* - - RAB3GAP2_00004 RAB3GAP2_0040 Micro syndrome - DNA SEQ - 1 Tunisian male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 20 c.2178_2181delAAAG
    + c.2178_2181delAAAG
- p.Lys728* - - RAB3GAP2_00003 RAB3GAP2_0030 Micro syndrome - DNA SEQ - 1 - - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 26 c.3085G>T
    + c.3085G>T
- p.Glu1029 - - RAB3GAP2_00010 RAB3GAP2_0504 Warburg Micro Syndrome - DNA SEQ - 1 - - Autosomal Recessive Familial - - - - -
+/+ RNA RT-PCR 27 c.3154G>T
    + c.3154G>T
- p.Gly1051Cys - - RAB3GAP2_00005 RAB3GAP2_0081 Martsolf syndrome Aligianis et al. Am J Hum Genet. 2006 Apr;78(4):702-7. RNA RT-PCR - 1 Pakistani male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 32 c.3637C>T
    + c.3637C>T
- p.Arg1213* - - RAB3GAP2_00009 RAB3GAP2_0503 Warburg Micro Syndrome - DNA SEQ - 1 Turkish - Autosomal Recessive Familial - - - - -
1 - 11

Legend: [ RAB3GAP2 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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein change: Variation at protein level. RE Site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency of polymorphism. RAB3GAP2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal patient reference Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference/Submitter: Links to PubMed ID (if available) and Submitter ID Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Population: Patient population Gender: Patient gender Sequence Inheritance: Sequence Inheritance Phenotype Inheritance: Phenotype Inheritance Second PCR: Second PCR CIS: Other Mutation in Cis Conserved residue: Variation affects conserved base or amino acid Related Phenotype: Related Phenotype Unrelated Phenotype: Unrelated Phenotype