LOVD - Variant listings for RAB18

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Technique Hide Technique column Descending
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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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Protein change Hide Protein change column Descending
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Sequence Inheritance Hide Sequence Inheritance column Descending
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CIS Hide CIS column Descending
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Conserved residue Hide Conserved residue column Descending
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+/+ DNA MLPA 2 Exon 2 deletion
    + Exon 2 deletion
- - - - RAB18_00005 RAB18_0009 Warburg Micro Syndrome Bem et al. AJHG 2011, doi:10.1016/j.ajhg.2011.03.012 DNA SEQ Family 5: Bem et al. AJHG 2011 1 - - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 2 c.71T>A
    + c.71T>A
- p.Leu24Gln - - RAB18_00001 RAB18_0002 Warburg Micro Syndrome Bem et al. AJHG 2011, doi:10.1016/j.ajhg.2011.03.012 DNA SEQ Family 4: Bem et al. AJHG 2011 1 Pakistani - - - Autosomal Recessive - Yes - -
+/+ DNA SEQ 2 c.71T>A
    + c.71T>A
- p.Leu24Gln - - RAB18_00002 RAB18_0003 Warburg Micro Syndrome Bem et al. AJHG 2011, doi:10.1016/j.ajhg.2011.03.012 DNA SEQ Family 1:Bem et al. AJHG 2011 1 Pakistani - Autosomal Recessive Familial - - Yes - -
+/+ DNA SEQ 2 c.71T>A
    + c.71T>A
- p.Leu24Gln - - RAB18_00003 RAB18_0004 Warburg Micro Syndrome Bem et al. AJHG 2011, doi:10.1016/j.ajhg.2011.03.012 DNA SEQ Family 3:Bem et al. AJHG 2011: No microgenitalia in boys 1 Pakistani - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 2 c.71T>A
    + c.71T>A
- p.Leu24Gln - - RAB18_00004 RAB18_0005 Warburg Micro Syndrome Bem et al. AJHG 2011, doi:10.1016/j.ajhg.2011.03.012 DNA SEQ Family 2: Bem et al. AJHG 2011 1 Pakistani female Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 5 c.277_279 del
    + c.619T>C
- p.Arg93 del - - RAB18_00007 RAB18_0009 Warburg Micro Syndrome Bem et al. AJHG 2011, doi:10.1016/j.ajhg.2011.03.012 DNA MLPA Family 6: Bem et al. AJHG 2011 1 Turkish - Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 5 c.284C>G
    + c.284C>G
- p.Thr95Arg - - RAB18_00008 RAB18_0134 Micro syndrome - DNA SEQ - 1 Egyptian male Autosomal Recessive Familial - - - - -
+/+ DNA SEQ 7 c.619T>C
    + c.277_279 del
- p.*207Glnext*20 - - RAB18_00006 RAB18_0009 Warburg Micro Syndrome Bem et al. AJHG 2011, doi:10.1016/j.ajhg.2011.03.012 DNA MLPA Family 6: Bem et al. AJHG 2011 1 Turkish - Autosomal Recessive Familial - - - - -
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Legend: [ RAB18 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. RAB18 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