NM_206933.4(USH2A):c.12294+1G>C AND Rare genetic deafness
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 2, 2010
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000041716.5
Allele description [Variation Report for NM_206933.4(USH2A):c.12294+1G>C]
NM_206933.4(USH2A):c.12294+1G>C
Condition(s)
-
Mus musculus reticulon 4 (Rtn4), transcript variant 4, mRNA
Mus musculus reticulon 4 (Rtn4), transcript variant 4, mRNAgi|34610205|ref|NM_024226.2|Nucleotide
-
Mus musculus reticulon 4 (Rtn4), transcript variant 2, mRNA
Mus musculus reticulon 4 (Rtn4), transcript variant 2, mRNAgi|34610232|ref|NM_194052.1|Nucleotide
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Last Updated: Sep 29, 2024