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NM_000280.4(PAX6):c.-7421C>T AND Aniridia 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 1, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000757891.11

Allele description [Variation Report for NM_000280.4(PAX6):c.-7421C>T]

NM_000280.4(PAX6):c.-7421C>T

Genes:
PAX6:paired box 6 [Gene - OMIM - HGNC]
PAX6-AS1:PAX6 antisense RNA 1 [Gene - HGNC]
LOC106014249:PAX6 upstream regulatory region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_000280.4(PAX6):c.-7421C>T
HGVS:
  • NC_000011.10:g.31818219G>A
  • NG_008679.1:g.4743C>T
  • NG_042225.1:g.7215G>A
  • NG_042225.2:g.7432G>A
  • LRG_720:g.4743C>T
  • NC_000011.9:g.31839767G>A
  • NM_000280.4:c.-7421C>T
Links:
dbSNP: rs537446654
NCBI 1000 Genomes Browser:
rs537446654

Condition(s)

Name:
Aniridia 1 (AN1)
Identifiers:
MONDO: MONDO:0024507; MedGen: C0344542; Orphanet: 250923; OMIM: 106210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000803681Genetics Department, University Hospital of Toulouse
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 1, 2018) 		inheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
PMC

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

Details of each submission

From Genetics Department, University Hospital of Toulouse, SCV000803681.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024