U.S. flag

An official website of the United States government

NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) AND Achromatopsia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 9, 2021
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:
RCV001834626.1

Allele description [Variation Report for NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)]

NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)

Gene:
CNGB3:cyclic nucleotide gated channel subunit beta 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.3
Genomic location:
Preferred name:
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)
HGVS:
  • NC_000008.11:g.86579224G>A
  • NG_016980.1:g.169452C>T
  • NM_019098.5:c.1810C>TMANE SELECT
  • NP_061971.3:p.Arg604Ter
  • NP_061971.3:p.Arg604Ter
  • NC_000008.10:g.87591452G>A
  • NM_019098.4:c.1810C>T
Protein change:
R604*
Links:
dbSNP: rs200805087
NCBI 1000 Genomes Browser:
rs200805087
Molecular consequence:
  • NM_019098.5:c.1810C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Achromatopsia
Synonyms:
Rod monochromatism
Identifiers:
MONDO: MONDO:0018852; MedGen: C0152200; Human Phenotype Ontology: HP:0011516

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002076059Natera, Inc.
no assertion criteria provided
Pathogenic
(Apr 9, 2021) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV002076059.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024