NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) AND Retinitis pigmentosa
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000987444.4
Allele description [Variation Report for NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)]
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)
Condition(s)
-
PubChem Substance Links for Gene (Select 253827) (88)
PubChem Substance
-
Chromosome neighbors for GEO Profiles (Select 86389254) (20)
GEO Profiles
-
22q11 microdeletion syndrome model: prefrontal cortex
22q11 microdeletion syndrome model: prefrontal cortexAccession: GDS3478GEO DataSets
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Related DataSets for GEO Profiles (Select 58009792) (1)
GEO DataSets
-
HSPA5 heat shock protein family A (Hsp70) member 5 [Homo sapiens]
HSPA5 heat shock protein family A (Hsp70) member 5 [Homo sapiens]Gene ID:3309Gene
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024