NM_023067.4(FOXL2):c.841_857dup (p.Pro287fs) AND Blepharophimosis, ptosis, and epicanthus inversus syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Nov 3, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000192037.3
Allele description [Variation Report for NM_023067.4(FOXL2):c.841_857dup (p.Pro287fs)]
NM_023067.4(FOXL2):c.841_857dup (p.Pro287fs)
Condition(s)
-
Eucalyptus xanthonema subsp. xanthonema external transcribed spacer and 18S ribo...
Eucalyptus xanthonema subsp. xanthonema external transcribed spacer and 18S ribosomal RNA gene, partial sequencegi|925711012|gb|KT632051.1|Nucleotide
-
cytochrome b (mitochondrion) [Aeorestes egregius]
cytochrome b (mitochondrion) [Aeorestes egregius]gi|912282674|gb|AKU61247.1|Protein
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Centronycteris maximilian...
cytochrome oxidase subunit 1, partial (mitochondrion) [Centronycteris maximiliani]gi|156078802|gb|ABU48059.1|Protein
-
Human islet of Langerhans regenerating protein (reg) mRNA, complete cds
Human islet of Langerhans regenerating protein (reg) mRNA, complete cdsgi|190978|gb|M18963.1|HUMREGANucleotide
-
IGFL2-AS1 IGFL2 antisense RNA 1 [Homo sapiens]
IGFL2-AS1 IGFL2 antisense RNA 1 [Homo sapiens]Gene ID:645553Gene
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Last Updated: May 7, 2024