NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp) AND Hereditary cryohydrocytosis with reduced stomatin
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003446454.1
Allele description [Variation Report for NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)]
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)
Condition(s)
-
Gene Links for GEO Profiles (Select 90439574) (1)
Gene
-
RMC1 regulator of MON1-CCZ1 [Homo sapiens]
RMC1 regulator of MON1-CCZ1 [Homo sapiens]Gene ID:29919Gene
-
Taxonomy Links for SRA (Select 14082445) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: May 7, 2024