NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro) AND Nemaline myopathy 2
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000945976.15
Allele description [Variation Report for NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro)]
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro)
Condition(s)
-
Chain A, BETA 1,4 GALACTOSYLTRANSFERASE
Chain A, BETA 1,4 GALACTOSYLTRANSFERASEgi|10835738|pdb|1FR8|AProtein
-
ZYRO0A11638g [Zygosaccharomyces rouxii]
ZYRO0A11638g [Zygosaccharomyces rouxii]Gene ID:8201998Gene
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024