LOVD - Variant listings for STRA6

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Patient data (#0001575)
Patient ID Fetus 6
Disease Heart/lung/diaphragm defects
Reference/Submitter Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks No eye anomalies - phenotype differs from STRA6 spectrum. Pathological mutation probably lies elsewhere.
# Reported 1
Population -
Gender -
Sequence Inheritance -
Phenotype Inheritance -
Second PCR -
CIS -
Conserved residue -
Related Phenotype Congenital defects of lungs, diaphragm, heart and kidneys; intrauterine growth retardation
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 13
Location Intron
Legacy DNA ID IVS13+32G>A
DNA published -
DNA change c.1166+32G>A   (View in UCSC Genome Browser)
RNA change r.(=)
Protein change -
RNA information No RNA change predicted
Protein information -
DB-ID STRA6_00034
Base number 1166
Template DNA
Technique SEQ
Frequency -
5' Sequence Context AGCGCC
Original Sequence G
Variant Sequence A
3' Sequence Context AGGTGG
Type Substitution
Domain -
RE Site -
Remarks -
Reference Golzio 2007 [17503335]

1 entry in STRA6

Path. Allele
Exon Descending
Ascending
Location Descending
Ascending
Legacy DNA ID Descending
Ascending
DNA published Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein change Descending
Ascending
RNA information Descending
Ascending
Protein information Descending
Ascending
DB-ID Descending
Ascending
Base number Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Frequency Descending
Ascending
5' Sequence Context Descending
Ascending
Original Sequence Descending
Ascending
Variant Sequence Descending
Ascending
3' Sequence Context Descending
Ascending
Type Descending
Ascending
Domain Descending
Ascending
RE Site Descending
Ascending
Remarks Descending
Ascending
Reference Descending
Ascending
-/- Unknown 13 Intron IVS13+32G>A - c.1166+32G>A r.(=) - No RNA change predicted - STRA6_00034 1166 DNA SEQ - AGCGCC G A AGGTGG Substitution - - - Golzio 2007 [17503335]