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NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) AND Retinal dystrophy, early-onset severe

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 2006
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:
RCV000008365.5

Allele description [Variation Report for NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)]

NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)

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.6088C>T (p.Arg2030Ter)
Other names:
NM_000350.3(ABCA4):c.6088C>T; p.Arg2030Ter; NP_000341.2:p.(Arg2030Ter)
HGVS:
  • NC_000001.11:g.94005500G>A
  • NG_009073.1:g.120650C>T
  • NG_009073.2:g.120648C>T
  • NM_000350.3:c.6088C>TMANE SELECT
  • NM_001425324.1:c.5866C>T
  • NP_000341.2:p.Arg2030Ter
  • NP_001412253.1:p.Arg1956Ter
  • NC_000001.10:g.94471056G>A
  • NM_000350.2:c.6088C>T
Protein change:
R1956*; ARG2030TER
Links:
OMIM: 601691.0029; dbSNP: rs61751383
NCBI 1000 Genomes Browser:
rs61751383
Molecular consequence:
  • NM_000350.3:c.6088C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001425324.1:c.5866C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinal dystrophy, early-onset severe
Identifiers:
MedGen: C1858080

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028573OMIM
no assertion criteria provided
Pathogenic
(May 1, 2006) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.

Singh HP, Jalali S, Hejtmancik JF, Kannabiran C.

Am J Ophthalmol. 2006 May;141(5):906-13. Epub 2006 Mar 20.

PubMed [citation]
PMID:
16546111

Details of each submission

From OMIM, SCV000028573.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 3 brothers, born of consanguineous Indian parents, with early-onset severe retinal dystrophy (see 248200), Singh et al. (2006) identified homozygosity for a 6088C-T transition in exon 44 of the ABCA4 gene, resulting in an arg2030-to-ter substitution. The parents and an unaffected sib were heterozygous for the mutation, which was not found in 100 normal controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024