NM_000388.4(CASR):c.961_962del (p.Ala321fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001941069.3
Allele description [Variation Report for NM_000388.4(CASR):c.961_962del (p.Ala321fs)]
NM_000388.4(CASR):c.961_962del (p.Ala321fs)
Condition(s)
-
Homo sapiens GTP binding elongation factor GUF1 (GUF1), transcript variant 4, mR...
Homo sapiens GTP binding elongation factor GUF1 (GUF1), transcript variant 4, mRNA; nuclear gene for mitochondrial productgi|1889533845|ref|NM_001345869.2|Nucleotide
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Last Updated: Feb 28, 2024