NM_017775.3(TTC19):c.573G>A (p.Ala191=) AND not provided

Clinical significance:Benign (Last evaluated: Mar 16, 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:
RCV000676982.1

Allele description [Variation Report for NM_017775.3(TTC19):c.573G>A (p.Ala191=)]

NM_017775.3(TTC19):c.573G>A (p.Ala191=)

Gene:
TTC19:tetratricopeptide repeat domain 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_017775.3(TTC19):c.573G>A (p.Ala191=)
Other names:
p.A312A:GCG>GCA
HGVS:
  • NC_000017.11:g.16004254G>A
  • NG_029806.1:g.9875G>A
  • NM_017775.3:c.573G>A
  • NP_060245.3:p.Ala191=
  • NC_000017.10:g.15907568G>A
Links:
dbSNP: rs58517927
NCBI 1000 Genomes Browser:
rs58517927
Molecular consequence:
  • NM_017775.3:c.573G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000802809Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedBenign
(Mar 16, 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 Genetic Testing Laboratories,Mayo Clinic, SCV000802809.1

#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: Mar 30, 2019

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