NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile) AND Schimke immuno-osseous dysplasia
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Jan 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001238928.6
Allele description [Variation Report for NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile)]
NM_014140.4(SMARCAL1):c.724G>A (p.Val242Ile)
Condition(s)
-
Vulpes vulpes strain TameXAggressive cross unplaced genomic scaffold, VulVul2.2 ...
Vulpes vulpes strain TameXAggressive cross unplaced genomic scaffold, VulVul2.2 scaffold8, whole genome shotgun sequencegi|1434463092|gnl|ASM:GCF_003160825 affold8|ref|NW_020356442.1||gpp|GPS_017139162.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024