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NM_000394.4(CRYAA):c.440del (p.Gln147fs) AND Developmental cataract

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 29, 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:
RCV000490785.1

Allele description [Variation Report for NM_000394.4(CRYAA):c.440del (p.Gln147fs)]

NM_000394.4(CRYAA):c.440del (p.Gln147fs)

Gene:
CRYAA:crystallin alpha A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000394.4(CRYAA):c.440del (p.Gln147fs)
HGVS:
  • NC_000021.9:g.43172198del
  • NG_009823.1:g.8168del
  • NM_000394.4:c.440delMANE SELECT
  • NM_001363766.1:c.329del
  • NP_000385.1:p.Gln147fs
  • NP_001350695.1:p.Gln110fs
  • NC_000021.8:g.44592308del
  • NM_000394.3:c.440del
Protein change:
Q110fs
Links:
dbSNP: rs1114167311
NCBI 1000 Genomes Browser:
rs1114167311
Molecular consequence:
  • NM_000394.4:c.440del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363766.1:c.329del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Developmental cataract
Synonyms:
Congenital cataract; Congenital cataracts
Identifiers:
MedGen: C0009691; Human Phenotype Ontology: HP:0000519

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000297751Department of Ophthalmology, Flinders University
no assertion criteria provided
Likely pathogenic
(Jul 29, 2016)
inheritedclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Ophthalmology, Flinders University, SCV000297751.1

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

Last Updated: Mar 30, 2024