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| Hereditary neuropathy or pain disorder v6.165 | VWA1_GGCGCGGAGC | Sarah Leigh Tag STR tag was added to STR: VWA1_GGCGCGGAGC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v6.165 | VWA1_GGCGCGGAGC |
Sarah Leigh STR: VWA1_GGCGCGGAGC was added STR: VWA1_GGCGCGGAGC was added to Hereditary neuropathy or pain disorder. Sources: Literature NGS Not Validated tags were added to STR: VWA1_GGCGCGGAGC. Mode of inheritance for STR: VWA1_GGCGCGGAGC was set to BIALLELIC, autosomal or pseudoautosomal Publications for STR: VWA1_GGCGCGGAGC were set to 33559681 Phenotypes for STR: VWA1_GGCGCGGAGC were set to Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216; neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977 Review for STR: VWA1_GGCGCGGAGC was set to GREEN Added comment: VWA1 is transcribed from the forward strand. VWA1_GGCGCGGAGC is on https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 VWA1_GGCGCGGAGC is on https://stripy.org/database VWA1_GGCGCGGAGC is on DRAGON 4.02. The coordinates of the sequence repeats shown above were the same on the above resources. The non-pathogenic and pathogenic ranges of the sequence repeats shown above were obtained from: https://stripy.org/database and https://gnomad.broadinstitute.org/short-tandem-repeats?dataset=gnomad_r4 There is enough evidence for this STR to be green on this panel. This STR has not been approved by NHS STR working group and is not NGS Not Validated Sources: Literature |
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