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NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp) AND Short stature

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 18, 2001
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:
RCV000736150.3

Allele description [Variation Report for NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp)]

NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp)

Genes:
GREB1L:GREB1 like retinoic acid receptor coactivator [Gene - OMIM - HGNC]
LOC101927521:uncharacterized LOC101927521 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
18q11.1
Genomic location:
Preferred name:
NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp)
HGVS:
  • NC_000018.10:g.21440307C>T
  • NM_001142966.3:c.988C>TMANE SELECT
  • NP_001136438.1:p.Arg330Trp
  • NC_000018.9:g.19020268C>T
  • NM_001142966.1:c.988C>T
Protein change:
R330W
Links:
dbSNP: rs377314861
NCBI 1000 Genomes Browser:
rs377314861
Molecular consequence:
  • NM_001142966.3:c.988C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short stature
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000864447Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
no assertion criteria provided
Likely pathogenic
(Nov 18, 2001) 		unknowncase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000864447.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024