NM_004700.4(KCNQ4):c.834G>T (p.Thr278=) AND Autosomal dominant nonsyndromic hearing loss 2A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003446468.1
Allele description [Variation Report for NM_004700.4(KCNQ4):c.834G>T (p.Thr278=)]
NM_004700.4(KCNQ4):c.834G>T (p.Thr278=)
Condition(s)
-
Combined deficiency of sialidase AND beta galactosidase
Combined deficiency of sialidase AND beta galactosidaseMedGen
-
C0268233[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024