NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Oct 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000727333.20
Allele description [Variation Report for NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)]
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Abnormal enteric ganglion morphology
Abnormal enteric ganglion morphologyMedGen
-
C4293671[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024