NM_019098.5(CNGB3):c.468C>T (p.Ser156=) AND Achromatopsia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 13, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001279844.1
Allele description [Variation Report for NM_019098.5(CNGB3):c.468C>T (p.Ser156=)]
NM_019098.5(CNGB3):c.468C>T (p.Ser156=)
Condition(s)
- Name:
- Achromatopsia
- Synonyms:
- Rod monochromatism
- Identifiers:
- MONDO: MONDO:0018852; MedGen: C0152200; Human Phenotype Ontology: HP:0011516
-
Outer arm dynein light chain 1 protein [Arabidopsis thaliana]
Outer arm dynein light chain 1 protein [Arabidopsis thaliana]gi|30679417|ref|NP_192235.3|Protein
-
Mus musculus serine (or cysteine) peptidase inhibitor, clade B, member 1a, mRNA ...
Mus musculus serine (or cysteine) peptidase inhibitor, clade B, member 1a, mRNA (cDNA clone MGC:129309 IMAGE:40045808), complete cdsgi|115528485|gb|BC104333.2|Nucleotide
-
Homo sapiens, clone IMAGE:3908148, mRNA
Homo sapiens, clone IMAGE:3908148, mRNAgi|21708142|gb|BC033655.1|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024