NM_020549.4(CHAT):c.-10T>G AND not provided

Clinical significance:Benign (Last evaluated: Feb 29, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000676659.1

Allele description [Variation Report for NM_020549.4(CHAT):c.-10T>G]

NM_020549.4(CHAT):c.-10T>G

Gene:
CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q11.23
Genomic location:
Preferred name:
NM_020549.4(CHAT):c.-10T>G
HGVS:
  • NC_000010.11:g.49614180T>G
  • NG_011797.1:g.10086T>G
  • NG_053144.1:g.8880T>G
  • NM_001142929.1:c.-364T>G
  • NM_001142933.1:c.-326T>G
  • NM_001142934.1:c.-434T>G
  • NM_020549.4:c.-10T>G
  • NM_020984.3:c.-68-2322T>G
  • NM_020985.3:c.-240-124T>G
  • NM_020986.3:c.-69+978T>G
  • NC_000010.10:g.50822226T>G
Links:
dbSNP: rs7923716
NCBI 1000 Genomes Browser:
rs7923716
Molecular consequence:
  • NM_001142929.1:c.-364T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001142933.1:c.-326T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001142934.1:c.-434T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_020549.4:c.-10T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_020984.3:c.-68-2322T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020985.3:c.-240-124T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020986.3:c.-69+978T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000802454Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedBenign
(Feb 29, 2016)
unknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000802454.1

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

Last Updated: Aug 25, 2021

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