NM_198173.3(GRHL3):c.32G>A (p.Arg11Gln) AND nonsyndromic cleft palate

Clinical significance:Likely pathogenic (Last evaluated: Mar 1, 2021)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001530961.1

Allele description [Variation Report for NM_198173.3(GRHL3):c.32G>A (p.Arg11Gln)]

NM_198173.3(GRHL3):c.32G>A (p.Arg11Gln)

Gene:
GRHL3:grainyhead like transcription factor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.11
Genomic location:
Preferred name:
NM_198173.3(GRHL3):c.32G>A (p.Arg11Gln)
HGVS:
  • NC_000001.11:g.24331440G>A
  • NG_009308.2:g.17050G>A
  • NM_001195010.2:c.-107G>A
  • NM_021180.4:c.47G>A
  • NM_198173.3:c.32G>AMANE SELECT
  • NM_198174.3:c.32G>A
  • NP_067003.2:p.Arg16Gln
  • NP_937816.1:p.Arg11Gln
  • NP_937817.3:p.Arg11Gln
  • NC_000001.10:g.24657930G>A
Protein change:
R11Q
Molecular consequence:
  • NM_001195010.2:c.-107G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_021180.4:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198173.3:c.32G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198174.3:c.32G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
nonsyndromic cleft palate
Identifiers:
MedGen: CN234898

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001733601Orthodontics Department,Peking University School and Hospital of Stomatologyno assertion criteria providedLikely pathogenic
(Mar 1, 2021)
de novoresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Orthodontics Department,Peking University School and Hospital of Stomatology, SCV001733601.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 13, 2021

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