NM_000503.6(EYA1):c.340T>C (p.Phe114Leu) AND Branchiootorenal syndrome 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 12, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001212522.1
Allele description [Variation Report for NM_000503.6(EYA1):c.340T>C (p.Phe114Leu)]
NM_000503.6(EYA1):c.340T>C (p.Phe114Leu)
Condition(s)
-
Profile neighbors for GEO Profiles (Select 7201648) (200)
GEO Profiles
-
txid869067[Organism] (18)
Nucleotide
-
histone-lysine N-methyltransferase EHMT2 isoform X1 [Homo sapiens]
histone-lysine N-methyltransferase EHMT2 isoform X1 [Homo sapiens]gi|2462492226|ref|XP_054185699.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022