NM_019098.4(CNGB3):c.720C>T (p.Leu240=) AND Achromatopsia

Clinical significance:Likely benign (Last evaluated: Nov 10, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001279841.1

Allele description [Variation Report for NM_019098.4(CNGB3):c.720C>T (p.Leu240=)]

NM_019098.4(CNGB3):c.720C>T (p.Leu240=)

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_019098.4(CNGB3):c.720C>T (p.Leu240=)
HGVS:
  • NC_000008.11:g.86667057G>A
  • NG_016980.1:g.81619C>T
  • NM_019098.4:c.720C>T
  • NP_061971.3:p.Leu240=
  • NC_000008.10:g.87679285G>A
Links:
dbSNP: rs770816095
NCBI 1000 Genomes Browser:
rs770816095
Molecular consequence:
  • NM_019098.4:c.720C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001466972Natera, Inc.no assertion criteria providedLikely benign
(Nov 10, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001466972.1

#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 7, 2021

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