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NM_016362.5(GHRL):c.176C>T (p.Pro59Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001354363.1

Allele description [Variation Report for NM_016362.5(GHRL):c.176C>T (p.Pro59Leu)]

NM_016362.5(GHRL):c.176C>T (p.Pro59Leu)

Genes:
GHRL:ghrelin and obestatin prepropeptide [Gene - OMIM - HGNC]
GHRLOS:ghrelin opposite strand/antisense RNA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_016362.5(GHRL):c.176C>T (p.Pro59Leu)
HGVS:
  • NC_000003.12:g.10289811G>A
  • NG_011560.1:g.8137C>T
  • NG_033090.2:g.13860G>A
  • NM_001134941.3:c.173C>T
  • NM_001134944.2:c.140C>T
  • NM_001134945.2:c.137C>T
  • NM_001134946.2:c.73-2999C>T
  • NM_001302821.2:c.176C>T
  • NM_001302822.2:c.176C>T
  • NM_001302823.2:c.173C>T
  • NM_001302824.2:c.176C>T
  • NM_001302825.2:c.176C>T
  • NM_016362.3:c.176C>T
  • NM_016362.5:c.176C>TMANE SELECT
  • NP_001128413.1:p.Pro58Leu
  • NP_001128416.1:p.Pro47Leu
  • NP_001128417.1:p.Pro46Leu
  • NP_001289750.1:p.Pro59Leu
  • NP_001289751.1:p.Pro59Leu
  • NP_001289752.1:p.Pro58Leu
  • NP_001289753.1:p.Pro59Leu
  • NP_001289754.1:p.Pro59Leu
  • NP_057446.1:p.Pro59Leu
  • NC_000003.11:g.10331495G>A
Protein change:
P46L
Links:
dbSNP: rs749962204
NCBI 1000 Genomes Browser:
rs749962204
Molecular consequence:
  • NM_001134946.2:c.73-2999C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001134941.3:c.173C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134944.2:c.140C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134945.2:c.137C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302821.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302822.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302823.2:c.173C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302824.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302825.2:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016362.5:c.176C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001548961Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR)

See additional submitters

no assertion criteria provided
Uncertain significanceunknownclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System - The Canadian Open Genetics Repository (COGR), SCV001548961.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024