RGD:13522448 Rat Genome Database

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Variant: RGD:13522448 -  Homo sapiens

RGD ID: 13522448
RS ID: rs146770394
ClinVar ID: CV492426
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP1B1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 38,297,907
GRCh38 2 38,070,764
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008386.2:g.10338T>C
NC_000002.12:g.38070764A>G
NC_000002.11:g.38297907A>G
NP_000095.2:p.Asp530=
More... 		12/31/2019 synonymous variant likely benign|conflicting interpretations of pathogenicity|uncertain significance ANTERIOR SEGMENT DYSGENESIS 5; Glaucoma 3, primary congenital, A; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP1B1
Accession:NM_000104
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 530
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRRRQLRSAPPGPFAWPLIGNAAAVGQAAHLSFARLARR
YGDVFQIRLGSCPIVVLNGERAIHQALVQQGSAFADRPAFASFRVVSGGRSMAFGHYSEHWKVQRRAAHSMMRNFFTRQP
RSRQVLEGHVLSEARELVALLVRGSADGAFLDPRPLTVVAVANVMSAVCFGCRYSHDDPEFRELLSHNEEFGRTVGAGSL
VDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKFLRHCESLRPGAAPRDMMDAFILSAEKKAAGDSHGGGARLDLENV
PATITDIFGASQDTLSTALQWLLLLFTRYPDVQTRVQAELDQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFSSFVPVTIP
HATTANTSVLGYHIPKDTVVFVNQWSVNHDPLKWPNPENFDPARFLDKDGLINKDLTSRVMIFSVGKRRCIGEELSKMQL
FLFISILAHQCDFRANPNEPAKMNFSYGLTIKPKSFKVNVTLRESMELLDSAVQNLQAKETCQ*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000591749 CLINVAR
  RCV001089022 CLINVAR
  RCV001137226 CLINVAR
  RCV001137227 CLINVAR
  RCV003945419 CLINVAR
dbSNP (RS) rs146770394 CLINVAR
MedGen C0020302 CLINVAR
  C0344559 CLINVAR
  C1856439 CLINVAR
  C3661900 CLINVAR
NCBI Gene CYP1B1 CLINVAR
OMIM 231300 CLINVAR
  601771 CLINVAR
  604229 CLINVAR
SNOMED CT 204113001 CLINVAR
  204153003 CLINVAR