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NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Aug 14, 2013
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:
RCV000078126.17

Allele description [Variation Report for NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)]

NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)

Gene:
CYP1B1:cytochrome P450 family 1 subfamily B member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p22.2
Genomic location:
Preferred name:
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)
HGVS:
  • NC_000002.12:g.38075148A>T
  • NG_008386.2:g.5954T>A
  • NM_000104.4:c.241T>AMANE SELECT
  • NP_000095.2:p.Tyr81Asn
  • NP_000095.2:p.Tyr81Asn
  • NC_000002.11:g.38302291A>T
  • NM_000104.3:c.241T>A
  • Q16678:p.Tyr81Asn
Protein change:
Y81N; TYR81ASN
Links:
UniProtKB: Q16678#VAR_028736; OMIM: 601771.0017; dbSNP: rs9282671
NCBI 1000 Genomes Browser:
rs9282671
Molecular consequence:
  • NM_000104.4:c.241T>A - 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
SCV000109964Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(Aug 14, 2013)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing

Citations

PubMed

Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.

Patel HY, Richards AJ, De Karolyi B, Best SJ, Danesh-Meyer HV, Vincent AL.

Clin Exp Ophthalmol. 2012 May-Jun;40(4):e208-17. doi: 10.1111/j.1442-9071.2011.02714.x. Epub 2011 Dec 6.

PubMed [citation]
PMID:
22004014

Details of each submission

From Eurofins Ntd Llc (ga), SCV000109964.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 29, 2024