NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=) AND Primary ciliary dyskinesia 11
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001154592.11
Allele description [Variation Report for NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=)]
NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=)
Condition(s)
-
centrosomal protein of 192 kDa isoform X14 [Homo sapiens]
centrosomal protein of 192 kDa isoform X14 [Homo sapiens]gi|2217316992|ref|XP_047293525.1|Protein
-
CUZD1 CUB and zona pellucida like domains 1 [Homo sapiens]
CUZD1 CUB and zona pellucida like domains 1 [Homo sapiens]Gene ID:50624Gene
-
Gene Links for Protein (Select 30520377) (1)
Gene
-
acetyl-CoA carboxylase biotin carboxylase subunit [Bacillus subtilis]
acetyl-CoA carboxylase biotin carboxylase subunit [Bacillus subtilis]gi|1242724987|ref|WP_095843833.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Nov 10, 2024