NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val) 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:
- RCV003446902.1
Allele description [Variation Report for NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val)]
NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val)
Condition(s)
-
LOC122889023 [Homo sapiens]
LOC122889023 [Homo sapiens]Gene ID:122889023Gene
-
Gene Links for Nucleotide (Select 2112942488) (1)
Gene
-
Sap18 Sin3A associated protein 18 [Rattus norvegicus]
Sap18 Sin3A associated protein 18 [Rattus norvegicus]Gene ID:290284Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024