NM_000371.4(TTR):c.416C>T (p.Thr139Met) AND Hyperthyroxinemia, dystransthyretinemic
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003993656.1
Allele description [Variation Report for NM_000371.4(TTR):c.416C>T (p.Thr139Met)]
NM_000371.4(TTR):c.416C>T (p.Thr139Met)
Condition(s)
-
transmembrane protein 217 [Mus musculus]
transmembrane protein 217 [Mus musculus]gi|242332516|ref|NP_001156373.1|Protein
-
ENSAPLP00000010705 (0)
Protein
-
JGI_CAAO2980.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO2980 3', mRNA...
JGI_CAAO2980.rev NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO2980 3', mRNA sequencegi|71936183|gnl|dbEST|30598497|gb|C 13.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 26, 2024