nsv1067831 - (obsolete)
- Organism: Homo sapiens
- Study:nstd51 (obsolete - User submitted curated variants)
- Variant Type:insertion
- Method Type:Curated
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Data Source:Published variants curated by OMIM and GeneReviews and reviewed by NCBI staff
- Description:72-nt insertion of mtDNA into exon 15 of GLI3 (NG_008434.1); Insertion of 72-nt mitochondrial sequence for tRNA Ser and tRNA Leu (see PMID 15739154). PLEASE NOTE: The calls represented in this region now have equivalents in the study Clinical Structural Variants (nstd102). Please use the preferred nstd102 variant region accession for this variant; you can find it at top right under "Links to Other Resources" or in the mapping file provided here.
- Publication(s):Biesecker et al. 2000, Johnston et al. 2005, Ozerov et al. 1997, Turner et al. 2003
- Replacement Description: Replaced nstd51 variant regions with variants in [nstd102|/dbvar/studies/nstd102]
- Replacement Variant: nsv3919275
This variant has been obsoleted and is no longer valid.