U.S. flag

An official website of the United States government

NM_000554.6(CRX):c.24dup (p.Pro9fs) AND Retinal dystrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 28, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001073568.2

Allele description [Variation Report for NM_000554.6(CRX):c.24dup (p.Pro9fs)]

NM_000554.6(CRX):c.24dup (p.Pro9fs)

Gene:
CRX:cone-rod homeobox [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_000554.6(CRX):c.24dup (p.Pro9fs)
HGVS:
  • NC_000019.10:g.47834467dup
  • NG_008605.1:g.17626dup
  • NM_000554.6:c.24dupMANE SELECT
  • NP_000545.1:p.Pro9fs
  • NC_000019.9:g.48337724dup
  • NM_000554.4:c.21dupG
  • NM_000554.4:c.24dup
Protein change:
P9fs
Links:
dbSNP: rs62636512
NCBI 1000 Genomes Browser:
rs62636512
Molecular consequence:
  • NM_000554.6:c.24dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Retinal dystrophy
Synonyms:
Inherited retinal dystrophy
Identifiers:
MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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
SCV001239119Blueprint Genetics
criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)		Likely pathogenic
(Jun 28, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001239119.1

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

Last Updated: Jun 23, 2024