H3BQW4 · H3BQW4_HUMAN

  • Protein
    Adhesion G protein-coupled receptor G1
  • Gene
    ADGRG1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

1545101520253035404550
MTPQSLLQTTLFLLSLLFLVQGAHGRGHREDFRFCSQRNQTHRSSLHYKPTPDL
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs12118623422T>IgnomAD
rs21481825823P>AEnsembl
CA274490
RCV000169661
rs786204777
4Q>*
Bilateral frontoparietal polymicrogyria (ClinVar)
Pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs11986105374Q>PTOPMed
gnomAD
COSV65635721
RCV000711839
RCV001116136
RCV004026814
rs147879224
5S>L
Bilateral frontoparietal polymicrogyria (ClinVar)
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs19014931508Q>PEnsembl
RCV000711842
RCV000765300
RCV001117564
rs200241873
9T>M
Bilateral frontoparietal polymicrogyria (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs204372304812F>LLikely benign (Ensembl)TOPMed
gnomAD
rs204372383214L>MEnsembl
RCV001765070
rs1417033167
14L>PVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs76543210915S>CExAC
TOPMed
gnomAD
rs14451515015S>N1000Genomes
ESP
TOPMed
gnomAD
rs14451515015S>T1000Genomes
ESP
TOPMed
gnomAD
rs75833959021Q>KExAC
TOPMed
gnomAD
rs77873186222G>DExAC
TOPMed
gnomAD
rs125243775523A>DTOPMed
gnomAD
rs125243775523A>GTOPMed
gnomAD
rs147218301323A>TTOPMed
gnomAD
rs77172214324H>PExAC
gnomAD
rs77172214324H>RExAC
gnomAD
rs204400064824H>YTOPMed
COSV65636176
rs746514384
25G>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs204400316827G>VTOPMed
rs137516718328H>YgnomAD
rs204400475129R>GTOPMed
rs204400581330E>KTOPMed
rs133133722832F>CgnomAD
CA8078287
COSV65635964
RCV000395102
RCV001117566
RCV002518977
rs776480483
33R>C
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Bilateral frontoparietal polymicrogyria (ClinVar)
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CM093540
COSV108224469
rs759353835
33R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA
cosmic curated
ExAC
TOPMed
dbSNP
gnomAD
rs75935383533R>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs77648048333R>SVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs76952714337Q>*ExAC
gnomAD
rs204400961237Q>RgnomAD
VAR_069581
CM053914
COSV65636439
RCV001069769
rs764367185
38R>Q
CDCBM14A; abolishes interaction with COL3A1 (UniProt)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
NCI-TCGA
NCI-TCGA Cosmic
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
VAR_026242
CA253607
RCV000006185
RCV001813956
RCV003565380
RCV004018573
rs121908462
38R>W
CDCBM14A; abolishes interaction with COL3A1; reduces cell surface localization (UniProt)
Bilateral frontoparietal polymicrogyria (ClinVar)
Inborn genetic diseases (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs204401351940Q>KgnomAD
rs204401425341T>ITOPMed
rs127353153142H>QgnomAD
rs204401531443R>MTOPMed
rs143715219043R>STOPMed
gnomAD
rs75091464746L>HExAC
gnomAD
rs204402009347H>QEnsembl
rs75666956247H>RExAC
gnomAD
RCV001926282
rs2044021734
49K>EVariant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
rs204402255151T>ITOPMed
rs75422324852P>SLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs75422324852P>TLikely benign (Ensembl)ExAC
TOPMed
gnomAD
RCV001316588
RCV001835571
rs758040938
53D>H
Bilateral frontoparietal polymicrogyria (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
ExAC
dbSNP
gnomAD
rs36818329654L>QESP
TOPMed
gnomAD
rs77742184454L>VExAC
gnomAD
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.
FeedbackHelp