U.S. flag

An official website of the United States government

NM_000350.3(ABCA4):c.1894del (p.Ile632fs) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000085438.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.1894del (p.Ile632fs)]

NM_000350.3(ABCA4):c.1894del (p.Ile632fs)

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.1894del (p.Ile632fs)
HGVS:
  • NC_000001.11:g.94062621del
  • NG_009073.1:g.63530del
  • NG_009073.2:g.63528del
  • NM_000350.3:c.1894delMANE SELECT
  • NM_001425324.1:c.1893delA
  • NP_000341.2:p.Ile632fs
  • NP_001412253.1:p.Ile632Serfs
  • NC_000001.10:g.94528177del
  • NM_000350.2:c.1894delA
Protein change:
I632fs
Links:
dbSNP: rs61749413
NCBI 1000 Genomes Browser:
rs61749413
Molecular consequence:
  • NM_000350.3:c.1894del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001425324.1:c.1893delA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000117575Retina International
no classification provided
not providednot providednot provided

Description

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Retina International, SCV000117575.1

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

Last Updated: Mar 30, 2024