NM_033109.5(PNPT1):c.2067C>T (p.Ile689=) AND Autosomal recessive nonsyndromic hearing loss 70
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003333590.1
Allele description [Variation Report for NM_033109.5(PNPT1):c.2067C>T (p.Ile689=)]
NM_033109.5(PNPT1):c.2067C>T (p.Ile689=)
Condition(s)
-
S-adenosylmethionine--diacylglycerol 3-amino-3-carboxypropyl transferase [Aquibi...
S-adenosylmethionine--diacylglycerol 3-amino-3-carboxypropyl transferase [Aquibium oceanicum]gi|1111316778|gnl|PRJNA354894|BSQ44 5|gb|APH72792.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Oct 7, 2023