NM_014140.4(SMARCAL1):c.585A>C (p.Ala195=) AND Schimke immuno-osseous dysplasia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003504580.2
Allele description [Variation Report for NM_014140.4(SMARCAL1):c.585A>C (p.Ala195=)]
NM_014140.4(SMARCAL1):c.585A>C (p.Ala195=)
Condition(s)
-
Profile neighbors for GEO Profiles (Select 96353144) (199)
GEO Profiles
-
TMSB4X thymosin beta 4 X-linked [Homo sapiens]
TMSB4X thymosin beta 4 X-linked [Homo sapiens]Gene ID:7114Gene
-
Gene Links for GEO Profiles (Select 96345030) (1)
Gene
-
CIMAP1C ciliary microtubule associated protein 1C [Homo sapiens]
CIMAP1C ciliary microtubule associated protein 1C [Homo sapiens]Gene ID:161753Gene
-
Gene Links for GEO Profiles (Select 96364795) (1)
Gene
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Last Updated: Sep 29, 2024