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NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg) AND Abnormal cardiovascular system morphology

Germline classification:
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:
RCV001327979.1

Allele description [Variation Report for NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)]

NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)

Gene:
GNAQ:G protein subunit alpha q [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.2
Genomic location:
Preferred name:
NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg)
HGVS:
  • NC_000009.12:g.77794572T>C
  • NG_027904.2:g.241732A>G
  • NM_002072.5:c.626A>GMANE SELECT
  • NP_002063.2:p.Gln209Arg
  • LRG_1110t1:c.626A>G
  • LRG_1110:g.241732A>G
  • LRG_1110p1:p.Gln209Arg
  • NC_000009.11:g.80409488T>C
  • NM_002072.4:c.626A>G
Protein change:
Q209R
Links:
dbSNP: rs121913492
NCBI 1000 Genomes Browser:
rs121913492
Molecular consequence:
  • NM_002072.5:c.626A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Abnormal cardiovascular system morphology
Synonyms:
Abnormality of cardiovascular system morphology
Identifiers:
MedGen: C4049796; Human Phenotype Ontology: HP:0030680

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001437655MAGI's Lab - Research, MAGI Group
no assertion criteria provided
Pathogenicsomaticprovider interpretation

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From MAGI's Lab - Research, MAGI Group, SCV001437655.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 30, 2023