NM_000208.4(INSR):c.*289del AND Rabson-Mendenhall syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000374599.5
Allele description [Variation Report for NM_000208.4(INSR):c.*289del]
NM_000208.4(INSR):c.*289del
Condition(s)
-
cytochrome c oxidase subunit II (mitochondrion) [Pungitius pungitius]
cytochrome c oxidase subunit II (mitochondrion) [Pungitius pungitius]gi|212725484|gnl|NCBI_MITO|COX2_233 f|YP_002317236.1|Protein
-
PREDICTED: fibrillin-1 isoform X1 [Nanorana parkeri]
PREDICTED: fibrillin-1 isoform X1 [Nanorana parkeri]gi|1072265767|ref|XP_018418410.1|Protein
-
Carbonic anhydrase 3 [Mus musculus]
Carbonic anhydrase 3 [Mus musculus]gi|15029812|gb|AAH11129.1|Protein
-
LOC121436540 [Microtus oregoni]
LOC121436540 [Microtus oregoni]Gene ID:121436540Gene
-
FBN1 [Nanorana parkeri]
FBN1 [Nanorana parkeri]Gene ID:108792195Gene
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023