RGD:21404107 Rat Genome Database

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Variant: RGD:21404107 -  Homo sapiens

RGD ID: 21404107
RS ID: rs944452644
ClinVar ID: CV801603
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP1B1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 38,302,183
GRCh38 2 38,075,040
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000104.4:c.349C>T
NG_008386.2:g.6062C>T
NC_000002.12:g.38075040G>A
NC_000002.11:g.38302183G>A
More...
missense variant likely pathogenic Anterior segment dysgenesis 6, multiple subtypes; Glaucoma 3, primary congenital, A
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP1B1
Accession:NM_000104
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRRRQLRSAPPGPFAWPLIGNAAAVGQAAHLSFARLARR
YGDVFQIRLGSCPIVVLNGERAIHQALVQQGSAFADWPAFASFRVVSGGRSMAFGHYSEHWKVQRRAAHSMMRNFFTRQP
RSRQVLEGHVLSEARELVALLVRGSADGAFLDPRPLTVVAVANVMSAVCFGCRYSHDDPEFRELLSHNEEFGRTVGAGSL
VDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKFLRHCESLRPGAAPRDMMDAFILSAEKKAAGDSHGGGARLDLENV
PATITDIFGASQDTLSTALQWLLLLFTRYPDVQTRVQAELDQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFSSFVPVTIP
HATTANTSVLGYHIPKDTVVFVNQWSVNHDPLKWPNPENFDPARFLDKDGLINKDLTSRVMIFSVGKRRCIGEELSKMQL
FLFISILAHQCDFRANPNEPAKMNFSYGLTIKPKSFKVNVTLRESMELLDSAVQNLQAKETCQ*

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001004166 CLINVAR
  RCV003467568 CLINVAR
dbSNP (RS) rs944452644 CLINVAR
MedGen C1856439 CLINVAR
  C4310623 CLINVAR
NCBI Gene CYP1B1 CLINVAR
OMIM 231300 CLINVAR
  601771 CLINVAR
  617315 CLINVAR