U.S. flag

An official website of the United States government

NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn) AND Stargardt disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 23, 2019
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:
RCV001002839.1

Allele description [Variation Report for NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)]

NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)

Gene:
ABCA4:ATP binding cassette subfamily A member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p22.1
Genomic location:
Preferred name:
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)
HGVS:
  • NC_000001.11:g.94056689C>T
  • NG_009073.1:g.69461G>A
  • NG_009073.2:g.69459G>A
  • NM_000350.3:c.2294G>AMANE SELECT
  • NP_000341.2:p.Ser765Asn
  • NC_000001.10:g.94522245C>T
  • NM_000350.2:c.2294G>A
  • P78363:p.Ser765Asn
Protein change:
S765N
Links:
UniProtKB: P78363#VAR_012534; dbSNP: rs61749429
NCBI 1000 Genomes Browser:
rs61749429
Molecular consequence:
  • NM_000350.3:c.2294G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Stargardt disease (FFM)
Synonyms:
Stargardt's disease; Fundus flavimaculatus
Identifiers:
MONDO: MONDO:0019353; MedGen: C0271093; Orphanet: 827

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
SCV001160860Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Likely pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001160860.1

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

Last Updated: Oct 8, 2024