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NM_001145805.1(IRGM):c.313C>T (p.Leu105=)

Variation ID: Help
30716
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 1, 2011
Number of submission(s):
1
Condition(s):
Inflammatory bowel disease 19[Gene - MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_001145805.1(IRGM):c.313C>T (p.Leu105=)

Allele ID:
39673
Variant type:
single nucleotide variant
Cytogenetic location:
5q33.1
Genomic location:
  • Chr5: 150848436 (on Assembly GRCh38)
  • Chr5: 150227998 (on Assembly GRCh37)
Other names:
  • IRGM, 313C-T, LEU105LEU
Protein change:
L105L
HGVS:
  • NG_027809.2:g.6914C>T
  • NM_001145805.1:c.313C>T
  • NP_001139277.1:p.Leu105=
  • NC_000005.10:g.150848436C>T (GRCh38)
  • NC_000005.9:g.150227998C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs10065172
Molecular consequence:
NM_001145805.1:c.313C>T: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • GO-ESP 0.19492 (T)
  • GMAF 0.30370 (T)
  • ExAC 0.19130 (T)

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Mar 1, 2011)
no assertion criteria providedliterature onlygermlineOMIMSCV000044985.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017