NM_014585.6(SLC40A1):c.821A>G (p.His274Arg) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003369153.2
Allele description [Variation Report for NM_014585.6(SLC40A1):c.821A>G (p.His274Arg)]
NM_014585.6(SLC40A1):c.821A>G (p.His274Arg)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
-
Fanconi anemia group C protein isoform a [Homo sapiens]
Fanconi anemia group C protein isoform a [Homo sapiens]gi|56118236|ref|NP_000127.2|Protein
-
TLR4 POLYMORPHISM
TLR4 POLYMORPHISMMedGen
-
C4310915[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: May 1, 2024