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NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu) AND Achromatopsia 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 1998
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000010081.6

Allele description

NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu)

Gene:
CNGA3:cyclic nucleotide gated channel subunit alpha 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q11.2
Genomic location:
Preferred name:
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu)
HGVS:
  • NC_000002.12:g.98389696C>T
  • NG_009097.1:g.48542C>T
  • NM_001079878.2:c.434C>T
  • NM_001298.3:c.488C>TMANE SELECT
  • NP_001073347.1:p.Pro145Leu
  • NP_001289.1:p.Pro163Leu
  • NC_000002.11:g.99006159C>T
  • Q16281:p.Pro163Leu
Protein change:
P145L; PRO163LEU
Links:
UniProtKB: Q16281#VAR_010903; OMIM: 600053.0001; dbSNP: rs104893612
NCBI 1000 Genomes Browser:
rs104893612
Molecular consequence:
  • NM_001079878.2:c.434C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001298.3:c.488C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Achromatopsia 2 (ACHM2)
Synonyms:
Colorblindness, total; Rod monochromatism 2; Rod monochromacy 2
Identifiers:
MONDO: MONDO:0009003; MedGen: C1857618; Orphanet: 49382; OMIM: 216900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030302OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 1998) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B.

Nat Genet. 1998 Jul;19(3):257-9.

PubMed [citation]
PMID:
9662398

Details of each submission

From OMIM, SCV000030302.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Kohl et al. (1998) found that affected members in a family with rod monochromacy (ACHM2; 216900) were homozygous for a C-to-T transition at nucleotide 528 of the CNGA3 gene, resulting in a pro163-to-leu (P163L) substitution.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022