NM_017775.3(TTC19):c.146C>T (p.Pro49Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Aug 22, 2017)

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:
RCV000676981.1

Allele description [Variation Report for NM_017775.3(TTC19):c.146C>T (p.Pro49Leu)]

NM_017775.3(TTC19):c.146C>T (p.Pro49Leu)

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.146C>T (p.Pro49Leu)
HGVS:
  • NC_000017.11:g.15999994C>T
  • NG_029806.1:g.5615C>T
  • NM_001271420.1:c.-313C>T
  • NM_017775.3:c.146C>T
  • NP_060245.3:p.Pro49Leu
  • NC_000017.10:g.15903308C>T
Protein change:
P49L
Links:
dbSNP: rs537063695
NCBI 1000 Genomes Browser:
rs537063695
Molecular consequence:
  • NM_001271420.1:c.-313C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_017775.3:c.146C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000802808Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedUncertain significance
(Aug 22, 2017)
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, SCV000802808.1

#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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