NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu) AND Alstrom syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001969849.4
Allele description [Variation Report for NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu)]
NM_001378454.1(ALMS1):c.8057C>T (p.Pro2686Leu)
Condition(s)
-
tail-specific protease [Chryseobacterium carnipullorum]
tail-specific protease [Chryseobacterium carnipullorum]gi|1519520158|gnl|PRJNA498534|EG346 0|gb|AZA47845.1|Protein
-
LOC4336726 [Oryza sativa Japonica Group]
LOC4336726 [Oryza sativa Japonica Group]Gene ID:4336726Gene
-
txid2446652[Organism:noexp] (1)
Identical Protein Groups
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024