NM_001174147.2(LMX1B):c.232G>T (p.Glu78Ter) AND LMX1B-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003919621.1
Allele description [Variation Report for NM_001174147.2(LMX1B):c.232G>T (p.Glu78Ter)]
NM_001174147.2(LMX1B):c.232G>T (p.Glu78Ter)
Condition(s)
- Name:
- LMX1B-related disorder
- Synonyms:
- LMX1B-related condition
- Identifiers:
-
Sparassis sp. BAB-3679 5.8S ribosomal RNA gene, partial sequence; internal trans...
Sparassis sp. BAB-3679 5.8S ribosomal RNA gene, partial sequence; internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequencegi|655944905|gb|KJ588862.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 19, 2024