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NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 30, 2015
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:
RCV000153209.14

Allele description [Variation Report for NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)]

NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)

Gene:
EYS:eyes shut homolog [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q12
Genomic location:
Preferred name:
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu)
HGVS:
  • NC_000006.12:g.64388743T>C
  • NG_023443.2:g.1323483A>G
  • NM_001142800.2:c.6025A>GMANE SELECT
  • NM_001292009.2:c.6025A>G
  • NP_001136272.1:p.Lys2009Glu
  • NP_001136272.1:p.Lys2009Glu
  • NP_001278938.1:p.Lys2009Glu
  • NC_000006.11:g.65098636T>C
  • NM_001142800.1:c.6025A>G
Protein change:
K2009E
Links:
dbSNP: rs559078881
NCBI 1000 Genomes Browser:
rs559078881
Molecular consequence:
  • NM_001142800.2:c.6025A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292009.2:c.6025A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000202683Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Likely benign
(Mar 30, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000202683.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 8, 2024