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m.2939C>A AND Chloramphenicol resistance

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 11, 1981
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:
RCV000010253.4

Allele description [Variation Report for m.2939C>A]

m.2939C>A

Gene:
MT-RNR2:mitochondrially encoded 16S RNA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
m.2939C>A
Other names:
C2939A
HGVS:
NC_012920.1:m.2939C>A
Links:
OMIM: 561010.0002; dbSNP: rs199474824
NCBI 1000 Genomes Browser:
rs199474824

Condition(s)

Name:
Chloramphenicol resistance
Identifiers:
MedGen: CN322759

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030477OMIM
no assertion criteria provided
Pathogenic
(Nov 11, 1981) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Different nucleotide changes in the large rRNA gene of the mitochondrial DNA confer chloramphenicol resistance on two human cell lines.

Blanc H, Adams CW, Wallace DC.

Nucleic Acids Res. 1981 Nov 11;9(21):5785-95.

PubMed [citation]
PMID:
6273808
PMCID:
PMC327560

Details of each submission

From OMIM, SCV000030477.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

See Blanc et al. (1981).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 7, 2023