NM_001378454.1(ALMS1):c.8134A>G (p.Thr2712Ala) AND Alstrom syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001933149.3
Allele description [Variation Report for NM_001378454.1(ALMS1):c.8134A>G (p.Thr2712Ala)]
NM_001378454.1(ALMS1):c.8134A>G (p.Thr2712Ala)
Condition(s)
-
Homo sapiens mRNA for KIAA0718 protein, partial cds
Homo sapiens mRNA for KIAA0718 protein, partial cdsgi|3882156|dbj|AB018261.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024