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NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe) AND Bilateral frontoparietal polymicrogyria

Germline classification:
Likely pathogenic (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:
RCV001255739.3

Allele description [Variation Report for NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe)]

NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe)

Gene:
ADGRG1:adhesion G protein-coupled receptor G1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q21
Genomic location:
Preferred name:
NM_201525.4(ADGRG1):c.1925C>T (p.Ser642Phe)
HGVS:
  • NC_000016.10:g.57661957C>T
  • NG_011643.1:g.46960C>T
  • NM_001145770.3:c.1925C>T
  • NM_001145771.3:c.1943C>T
  • NM_001145772.3:c.1925C>T
  • NM_001145773.3:c.1940C>T
  • NM_001145774.3:c.1925C>T
  • NM_001290142.2:c.1433C>T
  • NM_001290143.2:c.1418C>T
  • NM_001290144.2:c.1400C>T
  • NM_001370428.1:c.1943C>T
  • NM_001370429.1:c.1943C>T
  • NM_001370430.1:c.1943C>T
  • NM_001370431.1:c.1943C>T
  • NM_001370432.1:c.1943C>T
  • NM_001370433.1:c.1940C>T
  • NM_001370434.1:c.1940C>T
  • NM_001370435.1:c.1925C>T
  • NM_001370436.1:c.1925C>T
  • NM_001370437.1:c.1925C>T
  • NM_001370438.1:c.1925C>T
  • NM_001370439.1:c.1925C>T
  • NM_001370440.1:c.1925C>T
  • NM_001370441.1:c.1922C>T
  • NM_001370442.1:c.1769C>T
  • NM_001370451.1:c.1400C>T
  • NM_001370453.1:c.1400C>T
  • NM_001370454.1:c.1400C>T
  • NM_005682.7:c.1943C>T
  • NM_201524.4:c.1925C>T
  • NM_201525.4:c.1925C>TMANE SELECT
  • NP_001139242.1:p.Ser642Phe
  • NP_001139243.1:p.Ser648Phe
  • NP_001139244.1:p.Ser642Phe
  • NP_001139245.1:p.Ser647Phe
  • NP_001139246.1:p.Ser642Phe
  • NP_001277071.1:p.Ser478Phe
  • NP_001277072.1:p.Ser473Phe
  • NP_001277073.1:p.Ser467Phe
  • NP_001357357.1:p.Ser648Phe
  • NP_001357358.1:p.Ser648Phe
  • NP_001357359.1:p.Ser648Phe
  • NP_001357360.1:p.Ser648Phe
  • NP_001357361.1:p.Ser648Phe
  • NP_001357362.1:p.Ser647Phe
  • NP_001357363.1:p.Ser647Phe
  • NP_001357364.1:p.Ser642Phe
  • NP_001357365.1:p.Ser642Phe
  • NP_001357366.1:p.Ser642Phe
  • NP_001357367.1:p.Ser642Phe
  • NP_001357368.1:p.Ser642Phe
  • NP_001357369.1:p.Ser642Phe
  • NP_001357370.1:p.Ser641Phe
  • NP_001357371.1:p.Ser590Phe
  • NP_001357380.1:p.Ser467Phe
  • NP_001357382.1:p.Ser467Phe
  • NP_001357383.1:p.Ser467Phe
  • NP_005673.3:p.Ser648Phe
  • NP_958932.1:p.Ser642Phe
  • NP_958933.1:p.Ser642Phe
  • NC_000016.9:g.57695869C>T
  • NM_001145772.2:c.1925C>T
Protein change:
S467F
Links:
Molecular consequence:
  • NM_001145770.3:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145771.3:c.1943C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145772.3:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145773.3:c.1940C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145774.3:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290142.2:c.1433C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290143.2:c.1418C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001290144.2:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370428.1:c.1943C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370429.1:c.1943C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370430.1:c.1943C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370431.1:c.1943C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370432.1:c.1943C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370433.1:c.1940C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370434.1:c.1940C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370435.1:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370436.1:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370437.1:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370438.1:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370439.1:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370440.1:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370441.1:c.1922C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370442.1:c.1769C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370451.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370453.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001370454.1:c.1400C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005682.7:c.1943C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201524.4:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201525.4:c.1925C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Bilateral frontoparietal polymicrogyria
Synonyms:
CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 14A (BILATERAL FRONTOPARIETAL)
Identifiers:
MONDO: MONDO:0011738; MedGen: C1847352; OMIM: 606854

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001432313Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Likely pathogenicunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot provided1not providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001432313.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Jun 23, 2024