NM_173563.3(FAM217A):c.1047T>G (p.Ser349Arg) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 20, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004609284.1
Allele description [Variation Report for NM_173563.3(FAM217A):c.1047T>G (p.Ser349Arg)]
NM_173563.3(FAM217A):c.1047T>G (p.Ser349Arg)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
Homo sapiens olfactory marker protein (OMP), mRNA
Homo sapiens olfactory marker protein (OMP), mRNAgi|5453827|ref|NM_006189.1|Nucleotide
-
transcription initiation factor IIE subunit beta isoform X1 [Homo sapiens]
transcription initiation factor IIE subunit beta isoform X1 [Homo sapiens]gi|2462619187|ref|XP_054216347.1|Protein
-
protein CLN8 isoform X1 [Homo sapiens]
protein CLN8 isoform X1 [Homo sapiens]gi|530387328|ref|XP_005266079.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 11, 2024