NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser) AND Autosomal recessive nonsyndromic hearing loss 22
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Mar 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000087055.5
Allele description [Variation Report for NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser)]
NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser)
Condition(s)
-
txid195102[Organism:noexp] AND (structure_pubmed[filt]) (23)
Structure
-
Homo sapiens prostaglandin E2 receptor EP2 subtype mRNA, complete cds
Homo sapiens prostaglandin E2 receptor EP2 subtype mRNA, complete cdsgi|452495|gb|L28175.1|HUMPERENucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024