RGD:8639363 Rat Genome Database

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Variant: RGD:8639363 -  Homo sapiens

RGD ID: 8639363
RS ID: rs1056827
ClinVar ID: CV98346
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP1B1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 38,302,177
GRCh38 2 38,075,034
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.38075034C>A
NC_000002.11:g.38302177C>A
NP_000095.2:p.Ala119Ser
NG_008386.2:g.6068G>T
More... 		12/03/2021 missense variant benign|likely benign AllHighlyPenetrant; Anterior segment dysgenesis 6; Anterior segment dysgenesis 6, multiple subtypes; Glaucoma 3, primary congenital, A; Glaucoma 3, primary infantile, B; Glaucoma primary congenita type 3B; GLAUCOMA, PRIMARY CONGENITAL, TYPE B; GLC3 type B; GLC3B; none provided; Primary congenital glaucoma type 3B
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP1B1
Accession:NM_000104
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRRRQLRSAPPGPFAWPLIGNAAAVGQAAHLSFARLARR
YGDVFQIRLGSCPIVVLNGERAIHQALVQQGSAFADRPSFASFRVVSGGRSMAFGHYSEHWKVQRRAAHSMMRNFFTRQP
RSRQVLEGHVLSEARELVALLVRGSADGAFLDPRPLTVVAVANVMSAVCFGCRYSHDDPEFRELLSHNEEFGRTVGAGSL
VDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKFLRHCESLRPGAAPRDMMDAFILSAEKKAAGDSHGGGARLDLENV
PATITDIFGASQDTLSTALQWLLLLFTRYPDVQTRVQAELDQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFSSFVPVTIP
HATTANTSVLGYHIPKDTVVFVNQWSVNHDPLKWPNPENFDPARFLDKDGLINKDLTSRVMIFSVGKRRCIGEELSKMQL
FLFISILAHQCDFRANPNEPAKMNFSYGLTIKPKSFKVNVTLRESMELLDSAVQNLQAKETCQ*
Variant Samples
Additional References at PubMed
PMID:10739169   PMID:16384942   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000078127 CLINVAR
  RCV000370643 CLINVAR
  RCV001518261 CLINVAR
  RCV001650895 CLINVAR
  RCV001664266 CLINVAR
  RCV002490674 CLINVAR
dbSNP (RS) rs1056827 CLINVAR
MedGen C0020302 CLINVAR
  C1856439 CLINVAR
  C3661900 CLINVAR
  C4310623 CLINVAR
  CN169374 CLINVAR
NCBI Gene CYP1B1 CLINVAR
OMIM 231300 CLINVAR
  600975 CLINVAR
  601771 CLINVAR
  617315 CLINVAR
SNOMED CT 204113001 CLINVAR