NM_000546.6(TP53):c.672+1G>T AND Li-Fraumeni syndrome 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002290025.2
Allele description [Variation Report for NM_000546.6(TP53):c.672+1G>T]
NM_000546.6(TP53):c.672+1G>T
Condition(s)
-
RecName: Full=T-box transcription factor TBX10; Short=T-box protein 10
RecName: Full=T-box transcription factor TBX10; Short=T-box protein 10gi|51338743|sp|O75333.2|TBX10_HUMANProtein
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See more...Assertion and evidence details
Last Updated: Jul 15, 2024