RGD:38474014 Rat Genome Database

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Variant: RGD:38474014 -  Homo sapiens

RGD ID: 38474014
RS ID: rs752571940
ClinVar ID: CV924580
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAV1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 116,199,006
GRCh38 7 116,558,952
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001753.5:c.202T>G
NG_012051.1:g.39168T>G
NP_001166366.1:p.Phe37Val
NP_001166367.1:p.Phe37Val
More... 		07/05/2019 missense variant uncertain significance BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 3; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome; Pulmonary hypertension, primary, 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CAV1
Accession:NM_001172895
Location:EXON
Amino Acid Prediction: F to V (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADELSEKQVYDAHTKEIDLVNRDPKHLNDDVVKIDVEDVIAEPEGTHSFDGIWKASFTTFTVTKYWFYRLLSALFGIPM
ALIWGIYFAILSFLHIWAVVPCIKSFLIEIQCISRVYSIYVHTVCDPLFEAVGKIFSNVRINLQKEI*

Gene Symbol:CAV1
Accession:NM_001172896
Location:EXON
Amino Acid Prediction: F to V (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADELSEKQVYDAHTKEIDLVNRDPKHLNDDVVKIDVEDVIAEPEGTHSFDGIWKASFTTFTVTKYWFYRLLSALFGIPM
ALIWGIYFAILSFLHIWAVVPCIKSFLIEIQCISRVYSIYVHTVCDPLFEAVGKIFSNVRINLQKEI*

Gene Symbol:CAV1
Accession:NM_001172897
Location:EXON
Amino Acid Prediction: F to V (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADELSEKQVYDAHTKEIDLVNRDPKHLNDDVVKIDVEDVIAEPEGTHSFDGIWKASFTTFTVTKYWFYRLLSALFGIPM
ALIWGIYFAILSFLHIWAVVPCIKSFLIEIQCISRVYSIYVHTVCDPLFEAVGKIFSNVRINLQKEI*

Gene Symbol:CAV1
Accession:NM_001753
Location:EXON
Amino Acid Prediction: F to V (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGGKYVDSEGHLYTVPIREQGNIYKPNNKAMADELSEKQVYDAHTKEIDLVNRDPKHLNDDVVKIDVEDVIAEPEGTHS
FDGIWKASFTTFTVTKYWFYRLLSALFGIPMALIWGIYFAILSFLHIWAVVPCIKSFLIEIQCISRVYSIYVHTVCDPLF
EAVGKIFSNVRINLQKEI*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001214561 CLINVAR
  RCV002418738 CLINVAR
  RCV002484171 CLINVAR
dbSNP (RS) rs752571940 CLINVAR
MedGen C0950123 CLINVAR
  C2675861 CLINVAR
  C3809192 CLINVAR
NCBI Gene CAV1 CLINVAR
OMIM 601047 CLINVAR
  606721 CLINVAR
  612526 CLINVAR
  615343 CLINVAR