U.S. flag

An official website of the United States government

NM_000350.3(ABCA4):c.6729+5_6729+19del AND Retinitis pigmentosa 19

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 2016
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:
RCV000678515.3

Allele description [Variation Report for NM_000350.3(ABCA4):c.6729+5_6729+19del]

NM_000350.3(ABCA4):c.6729+5_6729+19del

Gene:
ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p22.1
Genomic location:
Preferred name:
NM_000350.3(ABCA4):c.6729+5_6729+19del
HGVS:
  • NC_000001.11:g.93997843_93997857del
  • NG_009073.1:g.128294_128308del
  • NG_009073.2:g.128292_128306del
  • NM_000350.3:c.6729+5_6729+19delMANE SELECT
  • NC_000001.10:g.94463398_94463412del
  • NC_000001.10:g.94463399_94463413del
  • NM_000350.2:c.6729+5_6729+19del
  • NM_000350.2:c.6729+5_6729+19delGTTGGCCCTGGGGCA
Links:
dbSNP: rs749526785
NCBI 1000 Genomes Browser:
rs749526785
Molecular consequence:
  • NM_000350.3:c.6729+5_6729+19del - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Retinitis pigmentosa 19 (RP19)
Synonyms:
ABCA4-Related Retinitis Pigmentosa
Identifiers:
MONDO: MONDO:0011137; MedGen: C1866422; Orphanet: 791; OMIM: 601718

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
SCV000804587Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
no assertion criteria provided
Uncertain significance
(Sep 1, 2016) 		inheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+, SCV000804587.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024