LOVD - Variant listings for STRA6

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Patient data (#0001573)
Patient ID Fetus 5
Disease Congenital defects of lungs, diaphragm and aorta
Reference/Submitter Golzio 2007 [17503335], United Kingdom (Great Britain):Edinburgh
Template DNA
Technique SEQ
Remarks Foetus has 3 heterozygous STRA6 variants, none of which appears pathological. Eyes unaffected - phenotype does not match STRA6 spectrum.
# Reported 1
Population -
Gender -
Sequence Inheritance -
Phenotype Inheritance -
Second PCR -
CIS -
Conserved residue -
Related Phenotype Congenital defects of lungs, diaphragm and aorta; single umbilical artery
Unrelated  Phenotype -
Submitter Isabel Hanson

Variant data
Allele Unknown
Reported pathogenicity No known pathogenicity
Concluded pathogenicity No known pathogenicity
Exon 15
Location Exon
Legacy DNA ID -
DNA published -
DNA change c.1416G>A   (View in UCSC Genome Browser)
RNA change -
Protein change p.(=)
RNA information Ser (ucg) Ser (uga) predicted
Protein information No change
DB-ID STRA6_00033
Base number 1416
Template DNA
Technique SEQ
Frequency -
5' Sequence Context GTCCTC
Original Sequence G
Variant Sequence A
3' Sequence Context TG/GTGA
Type Substitution
Domain -
RE Site -
Remarks rs351241 in dbSNP
Reference Golzio 2007 [17503335] dbSNP

3 entries 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 07 Intron IVS7+9T>G - c.596+9T>G - - Effect unknown - STRA6_00031 596 DNA SEQ - AACCGC T G GATCAC Substitution - - rs28541560 in dbSNP Golzio 2007 [17503335] dbSNP
-/- Unknown 14 Intron IVS14-44A>C c.1301-43A>C c.1301-44A>C - - Effect unknown - STRA6_00032 1301 DNA SEQ - GTTTTC A C TGGAAC Substitution - - rs351240 in dbSNP Golzio 2007 [17503335] dbSNP
-/- Unknown 15 Exon - - c.1416G>A - p.(=) Ser (ucg) Ser (uga) predicted No change STRA6_00033 1416 DNA SEQ - GTCCTC G A TG/GTGA Substitution - - rs351241 in dbSNP Golzio 2007 [17503335] dbSNP