NM_000080.4(CHRNE):c.*837A>G AND Congenital myasthenic syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000298853.5
Allele description [Variation Report for NM_000080.4(CHRNE):c.*837A>G]
NM_000080.4(CHRNE):c.*837A>G
Condition(s)
-
zq74h11.s1 Stratagene hNT neuron (#937233) Homo sapiens cDNA clone IMAGE:647397 ...
zq74h11.s1 Stratagene hNT neuron (#937233) Homo sapiens cDNA clone IMAGE:647397 3', mRNA sequencegi|1795425|gnl|dbEST|838760|gb|AA19 1|Nucleotide
-
paxillin isoform X3 [Homo sapiens]
paxillin isoform X3 [Homo sapiens]gi|2462533378|ref|XP_054228710.1|Protein
-
paxillin isoform X23 [Homo sapiens]
paxillin isoform X23 [Homo sapiens]gi|2462533370|ref|XP_054228706.1|Protein
-
paxillin isoform X25 [Homo sapiens]
paxillin isoform X25 [Homo sapiens]gi|2462533376|ref|XP_054228709.1|Protein
-
PREDICTED: Homo sapiens paxillin (PXN), transcript variant X30, mRNA
PREDICTED: Homo sapiens paxillin (PXN), transcript variant X30, mRNAgi|2462533384|ref|XM_054372738.1|Nucleotide
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Last Updated: Sep 29, 2024