NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) AND Arterial tortuosity syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (5 submissions)
- Last evaluated:
- Nov 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000202453.30
Allele description [Variation Report for NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)]
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)
Condition(s)
-
Gamochaeta serpyllifolia voucher CONC:Baeza 4357 ribosomal protein L32 (rpL32) g...
Gamochaeta serpyllifolia voucher CONC:Baeza 4357 ribosomal protein L32 (rpL32) gene, partial cds; and rpl32-trnL intergenic spacer, partial sequence; chloroplastgi|688009347|gb|KM091346.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024