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NM_000823.3(GHRHR):c.214G>T (p.Glu72Ter)

Variation ID: Help
15989
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jul 1, 2003
Number of submission(s):
1
Condition(s):
Isolated growth hormone deficiency type 1B[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000823.3(GHRHR):c.214G>T (p.Glu72Ter)

Allele ID:
31028
Variant type:
single nucleotide variant
Cytogenetic location:
7p14
Genomic location:
  • Chr7: 30969116 (on Assembly GRCh38)
  • Chr7: 31008731 (on Assembly GRCh37)
Protein change:
E72*
HGVS:
  • NG_021416.1:g.10096G>T
  • NM_000823.3:c.214G>T
  • NP_000814.2:p.Glu72Ter
  • NC_000007.14:g.30969116G>T (GRCh38)
  • NC_000007.13:g.31008731G>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs121918117
Molecular consequence:
NM_000823.3:c.214G>T: nonsense [Sequence Ontology SO:0001587]
Allele frequency:
  • GMAF 0.00020 (T)
  • ExAC 0.00048 (T)

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Jul 1, 2003)
no assertion criteria providedliterature onlygermlineOMIMSCV000037632.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Dec 15, 2017