NM_000371.4(TTR):c.13C>G (p.Arg5Gly) AND Amyloidosis, hereditary systemic 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 20, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001213836.6
Allele description [Variation Report for NM_000371.4(TTR):c.13C>G (p.Arg5Gly)]
NM_000371.4(TTR):c.13C>G (p.Arg5Gly)
Condition(s)
- Name:
- Amyloidosis, hereditary systemic 1 (AMYLD1)
- Synonyms:
- Amyloidosis Transthyretin related; Amyloid polyneuropathy transthyretin related; Transthyretin amyloidosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0971004; MedGen: C2751492; Orphanet: 85447; Orphanet: 85451; OMIM: 105210
-
Mus musculus predicted pseudogene 9755 (Gm9755) on chromosome 8
Mus musculus predicted pseudogene 9755 (Gm9755) on chromosome 8gi|254939719|ref|NG_007448.2|Nucleotide
-
interleukin 23 receptor, partial [Homo sapiens]
interleukin 23 receptor, partial [Homo sapiens]gi|302128098|dbj|BAJ13471.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024