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NM_001922.5(DCT):c.1180-122A>G AND Age related macular degeneration 7

Germline classification:
association (1 submission)
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:
RCV004362764.1

Allele description

NM_001922.5(DCT):c.1180-122A>G

Gene:
DCT:dopachrome tautomerase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q32.1
Genomic location:
Preferred name:
NM_001922.5(DCT):c.1180-122A>G
HGVS:
  • NC_000013.11:g.94443759T>C
  • NM_001129889.3:c.1279-122A>G
  • NM_001322182.2:c.247-122A>G
  • NM_001322183.2:c.247-122A>G
  • NM_001322184.2:c.247-122A>G
  • NM_001322185.2:c.247-122A>G
  • NM_001322186.2:c.991-122A>G
  • NM_001922.5:c.1180-122A>GMANE SELECT
  • NC_000013.10:g.95096013T>C
Links:
dbSNP: rs1407995
NCBI 1000 Genomes Browser:
rs1407995
Molecular consequence:
  • NM_001129889.3:c.1279-122A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322182.2:c.247-122A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322183.2:c.247-122A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322184.2:c.247-122A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322185.2:c.247-122A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322186.2:c.991-122A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001922.5:c.1180-122A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Age related macular degeneration 7
Synonyms:
MACULAR DEGENERATION, AGE-RELATED, 7, SUSCEPTIBILITY TO
Identifiers:
MONDO: MONDO:0012419; MedGen: C1857813; OMIM: 610149

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004098880School of Pharmacy, University of Eastern Finland
no assertion criteria provided
associationgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes150not providednot providednot providednot providedresearch

Details of each submission

From School of Pharmacy, University of Eastern Finland, SCV004098880.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided150not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided150not providednot providednot provided

Last Updated: May 19, 2024