NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) AND Alstrom syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (5 submissions)
- Last evaluated:
- Nov 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000705168.15
Allele description [Variation Report for NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)]
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
Condition(s)
-
PREDICTED: Mus musculus WAP, follistatin/kazal, immunoglobulin, kunitz and netri...
PREDICTED: Mus musculus WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (Wfikkn2), transcript variant X1, mRNAgi|1907082008|ref|XM_006533497.5|Nucleotide
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Last Updated: Oct 26, 2024