NM_014140.4(SMARCAL1):c.2247C>T (p.His749=) AND Schimke immuno-osseous dysplasia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 21, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000939452.9
Allele description [Variation Report for NM_014140.4(SMARCAL1):c.2247C>T (p.His749=)]
NM_014140.4(SMARCAL1):c.2247C>T (p.His749=)
Condition(s)
-
Rattus norvegicus ER membrane protein complex subunit 6 (Emc6), mRNA
Rattus norvegicus ER membrane protein complex subunit 6 (Emc6), mRNAgi|1937912774|ref|NM_001105806.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024