NM_002653.5(PITX1):c.686T>C (p.Met229Thr) AND PITX1-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003418574.4
Allele description [Variation Report for NM_002653.5(PITX1):c.686T>C (p.Met229Thr)]
NM_002653.5(PITX1):c.686T>C (p.Met229Thr)
Condition(s)
- Name:
- PITX1-related disorder
- Synonyms:
- PITX1-related condition
- Identifiers:
-
Mus musculus CD320 antigen (Cd320), transcript variant 2, mRNA
Mus musculus CD320 antigen (Cd320), transcript variant 2, mRNAgi|761631391|ref|NM_001305169.1|Nucleotide
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Last Updated: Sep 29, 2024