NM_000104.4(CYP1B1):c.1294= (p.Leu432=) AND not specified

Clinical significance:Benign (Last evaluated: Nov 5, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000153126.2

Allele description [Variation Report for NM_000104.4(CYP1B1):c.1294= (p.Leu432=)]

NM_000104.4(CYP1B1):c.1294= (p.Leu432=)

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.1294= (p.Leu432=)
HGVS:
  • NC_000002.12:g.38071060=
  • NG_008386.2:g.10042=
  • NM_000104.3:c.1294=
  • NM_000104.4:c.1294=MANE SELECT
  • NP_000095.2:p.Leu432=
  • NP_000095.2:p.Leu432=
  • NC_000002.11:g.38298203C>G
  • NP_000095.2:p.Val432Leu
Links:
PharmGKB Clinical Annotation: 655384573; dbSNP: rs1056836
NCBI 1000 Genomes Browser:
rs1056836
Molecular consequence:
  • NM_000104.3:c.1294= - no sequence alteration - [Sequence Ontology: SO:0002073]
  • NM_000104.4:c.1294= - no sequence alteration - [Sequence Ontology: SO:0002073]
Observations:
4

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000202586EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Nov 5, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000202586.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

Last Updated: Nov 27, 2021

Support Center