NM_014140.4(SMARCAL1):c.370C>T (p.Pro124Ser) AND Schimke immuno-osseous dysplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002650296.2
Allele description [Variation Report for NM_014140.4(SMARCAL1):c.370C>T (p.Pro124Ser)]
NM_014140.4(SMARCAL1):c.370C>T (p.Pro124Ser)
Condition(s)
-
O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polyp...
O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase), isoform CRA_b [Rattus norvegicus]gi|149042181|gb|EDL95888.1||gnl|WGS |rCP27133Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024