NM_000249.3(MLH1):c.194G>T AND not specified

Clinical significance:Uncertain significance

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:
RCV000202218.1

Allele description

NM_000249.3(MLH1):c.194G>T

Gene:
MLH1:mutL homolog 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000249.3(MLH1):c.194G>T
HGVS:
  • NC_000003.12:g.36996696G>T
  • NG_007109.2:g.8347G>T
  • NM_000249.3:c.194G>T
  • NM_001258273.1:c.-517+3033G>T
  • NP_000240.1:p.Gly65Val
  • LRG_216t1:c.194G>T
  • LRG_216:g.8347G>T
  • LRG_216p1:p.Gly65Val
  • NC_000003.11:g.37038187G>T
Protein change:
G65V
Links:
dbSNP: rs63751465
NCBI 1000 Genomes Browser:
rs63751465
Molecular consequence:
  • NM_001258273.1:c.-517+3033G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000249.3:c.194G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000257074Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedUncertain significanceunknownresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot providednot providednot providedresearch

Details of each submission

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000257074.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 11, 2016