NM_001378454.1(ALMS1):c.10494T>C (p.His3498=) AND Alstrom syndrome
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Dec 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001435341.8
Allele description [Variation Report for NM_001378454.1(ALMS1):c.10494T>C (p.His3498=)]
NM_001378454.1(ALMS1):c.10494T>C (p.His3498=)
Condition(s)
-
Human alpha-tubulin isotype H2-alpha gene, last exon
Human alpha-tubulin isotype H2-alpha gene, last exongi|340016|gb|K03460.1|HUMTUBA2HNucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024