NM_000127.3(EXT1):c.976del (p.Glu326fs) AND Exostoses, multiple, type 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 6, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003494096.1
Allele description [Variation Report for NM_000127.3(EXT1):c.976del (p.Glu326fs)]
NM_000127.3(EXT1):c.976del (p.Glu326fs)
Condition(s)
-
KIRREL3 [Phocoena sinus]
KIRREL3 [Phocoena sinus]Gene ID:116757488Gene
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See more...Assertion and evidence details
Last Updated: Feb 14, 2024