NM_004990.4(MARS1):c.1753+7A>G AND not provided

Clinical significance:Likely benign (Last evaluated: Nov 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000416119.6

Allele description [Variation Report for NM_004990.4(MARS1):c.1753+7A>G]

NM_004990.4(MARS1):c.1753+7A>G

Gene:
MARS1:methionyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.3
Genomic location:
Preferred name:
NM_004990.4(MARS1):c.1753+7A>G
HGVS:
  • NC_000012.12:g.57512360A>G
  • NG_034077.1:g.29408A>G
  • NM_004990.4:c.1753+7A>GMANE SELECT
  • NC_000012.11:g.57906143A>G
  • NM_004990.3:c.1753+7A>G
Links:
dbSNP: rs117914586
NCBI 1000 Genomes Browser:
rs117914586
Molecular consequence:
  • NM_004990.4:c.1753+7A>G - intron variant - [Sequence Ontology: SO:0001627]
Observations:
4

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000493526CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Nov 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV000493526.13

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

Last Updated: Nov 27, 2021

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