U.S. flag

An official website of the United States government

NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) AND Leber congenital amaurosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 13, 2017
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:
RCV000786015.1

Allele description [Variation Report for NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)]

NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)

Gene:
RPGRIP1:RPGR interacting protein 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs)
Other names:
p.Glu370AsnfsTer5
HGVS:
  • NC_000014.9:g.21312462del
  • NG_008933.1:g.29486del
  • NM_020366.4:c.1107delMANE SELECT
  • NP_065099.3:p.Glu370fs
  • NP_065099.3:p.Glu370fs
  • NC_000014.8:g.21780617del
  • NC_000014.8:g.21780621del
  • NM_020366.3:c.1103delA
  • NM_020366.3:c.1107del
  • NM_020366.3:c.1107del
  • NM_020366.3:c.1107delA
  • NM_020366.4:c.1107delAMANE SELECT
Protein change:
E370fs
Links:
OMIM: 605446.0004; OMIM: 605446.0009; dbSNP: rs61751266
NCBI 1000 Genomes Browser:
rs61751266
Molecular consequence:
  • NM_020366.4:c.1107del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Leber congenital amaurosis (LCA)
Synonyms:
Congenital retinal blindness; Leber's amaurosis
Identifiers:
MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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
SCV000924655Molecular Genetics Laboratory, Institute for Ophthalmic Research
no assertion criteria provided
Pathogenic
(Dec 13, 2017) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Molecular Genetics Laboratory, Institute for Ophthalmic Research, SCV000924655.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024