NM_005249.5(FOXG1):c.310C>T (p.Leu104Phe) AND Rett syndrome, congenital variant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003514617.2
Allele description [Variation Report for NM_005249.5(FOXG1):c.310C>T (p.Leu104Phe)]
NM_005249.5(FOXG1):c.310C>T (p.Leu104Phe)
Condition(s)
-
Taxonomy Links for Nucleotide (Select 116292888) (1)
Taxonomy
-
unnamed protein product [Homo sapiens]
unnamed protein product [Homo sapiens]gi|10438528|dbj|BAB15268.1|Protein
-
Protein Links for Conserved Domains (Select 439235) (382)
Protein
-
Homo sapiens cDNA: FLJ21810 fis, clone HEP01030
Homo sapiens cDNA: FLJ21810 fis, clone HEP01030gi|10437983|dbj|AK025463.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024