RGD:15110098 Rat Genome Database

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Variant: RGD:15110098 -  Homo sapiens

RGD ID: 15110098
RS ID: rs148205451
ClinVar ID: CV750948
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B2  LOC106799834  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 143,999,248
GRCh38 8 142,917,832
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008374.1:g.5012C>A
NG_055453.1:g.91G>T
NC_000008.10:g.143999248G>T
NP_000489.3:p.Leu3=
More... 		04/15/2020 synonymous variant likely benign|uncertain significance 18 alpha hydroxylase deficiency; 18 Hydroxylase deficiency; 18-OXIDASE DEFICIENCY; ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME; Aldosterone deficiency 1; Aldosterone deficiency due to defect in 18 hydroxylase; ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE; ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE; ALDOSTERONE DEFICIENCY I; ALDOSTERONE DEFICIENCY II; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE; CMO 1 deficiency; CMO I DEFICIENCY; CMO II DEFICIENCY; Corticosterone methyloxidase type 1 deficiency; FH I; GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM; Hyperaldosteronism, familial, type I; none provided; STEROID 18-HYDROXYLASE DEFICIENCY; STEROID 18-OXIDASE DEFICIENCY

Variant Details
Variant Transcripts
Gene Symbol:CYP11B2
Accession:NM_000498
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQGYEHLHLEMHQTFQELGPIFR
YNLGGPRMVCVMLPEDVEKLQQVDSLHPCRMILEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPDVLSPKAVQRFLPM
VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFNRPQHYTGIVAELLLKAELSLEAIKANSMELTAGSVDTTA
FPLLMTLFELARNPDVQQILRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVVSSDLVLQNYHIPAG
TLVQVFLYSLGRNAALFPRPERYNPQRWLDIRGSGRNFHHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHFLVETLTQED
IKMVYSFILRPGTSPLLTFRAIN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000916467 CLINVAR
  RCV001162585 CLINVAR
  RCV001164638 CLINVAR
  RCV001164639 CLINVAR
  RCV001275488 CLINVAR
dbSNP (RS) rs148205451 CLINVAR
MedGen C0268293 CLINVAR
  C3463917 CLINVAR
  C3661900 CLINVAR
  C3838731 CLINVAR
NCBI Gene 106799834 CLINVAR
  CYP11B2 CLINVAR
OMIM 103900 CLINVAR
  124080 CLINVAR
  203400 CLINVAR
  610600 CLINVAR
SNOMED CT 47757001 CLINVAR