NM_003140.3(SRY):c.274A>T (p.Lys92Ter) AND 46,XY sex reversal 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 1, 1992
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000010403.5
Allele description [Variation Report for NM_003140.3(SRY):c.274A>T (p.Lys92Ter)]
NM_003140.3(SRY):c.274A>T (p.Lys92Ter)
Condition(s)
-
protein UXT isoform 1 [Homo sapiens]
protein UXT isoform 1 [Homo sapiens]gi|24041018|ref|NP_705582.1|Protein
-
Homo sapiens small inducible cytokine subfamily E, member 1 (endothelial monocyt...
Homo sapiens small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating), mRNA (cDNA clone MGC:20063 IMAGE:3638796), complete cdsgi|33878437|gb|BC014051.2|Nucleotide
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Last Updated: Apr 23, 2022