NM_000249.3(MLH1):c.307-19A>G AND not provided

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000059814.3

Allele description [Variation Report for NM_000249.3(MLH1):c.307-19A>G]

NM_000249.3(MLH1):c.307-19A>G

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.307-19A>G
HGVS:
  • NC_000003.12:g.37004382A>G
  • NG_007109.2:g.16033A>G
  • NM_000249.3:c.307-19A>G
  • LRG_216t1:c.307-19A>G
  • LRG_216:g.16033A>G
  • NC_000003.11:g.37045873A>G
Links:
dbSNP: 121909451
NCBI 1000 Genomes Browser:
rs121909451
Allele Frequency:
NaN, GO-ESP
Molecular consequence:
  • NM_000249.3:c.307-19A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000091384Narod's Lab, University of Torontono assertion providednot providedgermlinenot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From Narod's Lab, University of Toronto, SCV000091384.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 6, 2016