LOVD - Variant listings for STRA6

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+/+ 02 Intron IVS2+3_4delAA - c.113+3_4delAA
    + c.113+3_4delAA
r.(spl?) - Aberrant splicing detected in an in vitro assay - STRA6_00069 113 DNA SEQ - AGGG/GT AA - GTGTGG Deletion - - Mutation reported but no data shown [26373900] Marcadier 2015 Patient 5 Multiple malformations [26373900], United Kingdom (Great Britain):Edinburgh DNA SEQ Parents non-consanguineous. A previous pregnancy was terminated owing to severe anomalies in the male foetus including fused eyelids, camptodactyly and absent lungs. 1 Hmong Chinese male - - - - - Pregnancy terminated. Male foetus had oedema, truncus arteriosus, small chest, camptodactyly and ocular anomalies. -
+/+ 02 Exon IVS2+3_4delAA - c.113+3_4delAA
    + c.113+3_4delAA
r.(spl?) - Aberrant splicing detected in an in vitro assay - STRA6_00070 113 DNA SEQ - AGGG/GT AA - GTGTGG Deletion - - Mutation reported but no data shown [26373900] Marcadier 2015 Patient 5 Multiple malformations [26373900], United Kingdom (Great Britain):Edinburgh DNA SEQ Parents non-consanguineous. A previous pregnancy was terminated owing to severe anomalies in the male foetus including fused eyelids, camptodactyly and absent lungs. 1 Hmong Chinese male - - - - - Pregnancy terminated. Male foetus had oedema, truncus arteriosus, small chest, camptodactyly and ocular anomalies. -
+/+ 02 Intron IVS2+3_4delAA - c.113+3_4delAA
    + c.113+3_4delAA
r.(spl?) - Aberrant splicing detected in an in vitro assay - STRA6_00071 113 DNA SEQ - AGGG/GT AA - GTGTGG Deletion - - Mutation reported but no data shown [26373900] Marcadier 2015 Patient 6 Anophthalmia [26373900], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 Hmong Chinese female - - - - - Bilateral anophthalmia, abnormal hair growth, camptodactyly, absent lungs, single ventricle, streak ovaries, multilobulated spleen -
+/+ 02 Intron IVS2+3_4delAA - c.113+3_4delAA
    + c.113+3_4delAA
r.(spl?) - Aberrant splicing detected in an in vitro assay - STRA6_00072 113 DNA SEQ - AGGG/GT AA - GTGTGG Deletion - - Mutation reported but no data shown [26373900] Marcadier 2015 Patient 6 Anophthalmia [26373900], United Kingdom (Great Britain):Edinburgh DNA SEQ - 1 Hmong Chinese female - - - - - Bilateral anophthalmia, abnormal hair growth, camptodactyly, absent lungs, single ventricle, streak ovaries, multilobulated spleen -
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Legend: [ STRA6 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. Exon: Exon numbering. Location: Variant location at DNA level. Legacy DNA ID: Legacy DNA ID DNA published: What the variant was reported as. 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. RNA information: RNA information Protein information: Protein information STRA6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Base number: Nucleotide number Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Frequency: Frequency of polymorphism. 5' Sequence Context: 5' sequence context Original Sequence: Original (wild type) sequence Variant Sequence: Variant Sequence 3' Sequence Context: 3' Sequence context Type: Type of variant at DNA level. Domain: Protein Domain RE Site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Remarks: Remarks Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. 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