U.S. flag

An official website of the United States government

NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro) AND Amelogenesis imperfecta

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2016
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:
RCV000495950.1

Allele description [Variation Report for NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro)]

NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro)

Gene:
GPR68:G protein-coupled receptor 68 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.11
Genomic location:
Preferred name:
NM_001177676.2(GPR68):c.221T>C (p.Leu74Pro)
HGVS:
  • NC_000014.9:g.91234830A>G
  • NG_052988.1:g.24051T>C
  • NM_001177676.2:c.221T>CMANE SELECT
  • NM_001348437.1:c.221T>C
  • NM_003485.3:c.221T>C
  • NP_001171147.1:p.Leu74Pro
  • NP_001335366.1:p.Leu74Pro
  • NP_003476.3:p.Leu74Pro
  • NC_000014.8:g.91701174A>G
  • NM_001177676.1:c.221T>C
Protein change:
L74P; LEU74PRO
Links:
OMIM: 601404.0003; dbSNP: rs1057517672
NCBI 1000 Genomes Browser:
rs1057517672
Molecular consequence:
  • NM_001177676.2:c.221T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348437.1:c.221T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003485.3:c.221T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Amelogenesis imperfecta (AI)
Synonyms:
Congenital enamel hypoplasia
Identifiers:
MONDO: MONDO:0019507; MedGen: C0002452; OMIM: PS104500; Human Phenotype Ontology: HP:0000705

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000298220Leeds Amelogenesis Imperfecta Research Group, University of Leeds
no assertion criteria provided
Pathogenic
(Aug 1, 2016) 		germlineresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Turkishgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.

Parry DA, Smith CE, El-Sayed W, Poulter JA, Shore RC, Logan CV, Mogi C, Sato K, Okajima F, Harada A, Zhang H, Koruyucu M, Seymen F, Hu JC, Simmer JP, Ahmed M, Jafri H, Johnson CA, Inglehearn CF, Mighell AJ.

Am J Hum Genet. 2016 Oct 6;99(4):984-990. doi: 10.1016/j.ajhg.2016.08.020. Epub 2016 Sep 29.

PubMed [citation]
PMID:
27693231
PMCID:
PMC5065684

Details of each submission

From Leeds Amelogenesis Imperfecta Research Group, University of Leeds, SCV000298220.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Turkishnot providednot providednot providedresearch PubMed (1)

Description

Predicted to alter a residue in the second transmembrane domain

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022