NM_144988.4(ALG14):c.66A>G (p.Ile22Met) AND Congenital myasthenic syndrome 15
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001928393.4
Allele description [Variation Report for NM_144988.4(ALG14):c.66A>G (p.Ile22Met)]
NM_144988.4(ALG14):c.66A>G (p.Ile22Met)
Condition(s)
-
Mus musculus cDNA clone IMAGE:3495132, **** WARNING: chimeric clone ****
Mus musculus cDNA clone IMAGE:3495132, **** WARNING: chimeric clone ****gi|92443577|gb|BC005525.1|Nucleotide
-
DFNA 3 Nonsyndromic Hearing Loss and Deafness
DFNA 3 Nonsyndromic Hearing Loss and DeafnessMedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024