RGD:13791442 Rat Genome Database

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Variant: RGD:13791442 -  Homo sapiens

RGD ID: 13791442
RS ID: rs764598023
ClinVar ID: CV544696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B1  LOC106799833  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 143,956,699
GRCh38 8 142,875,283
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000497.3:c.1151G>A
NM_001026213.1:c.1151G>A
NG_046132.1:g.1150C>T
NP_001021384.1:p.Arg384Gln
More... 		05/31/2022 missense variant pathogenic|likely pathogenic 11-alpha beta-hydroxylase deficiency; 11-beta-hydroxylase deficiency; ACTH-DEPENDENT HYPERALDOSTERONISM SYNDROME; Adrenal hyperplasia 4; Adrenal hyperplasia hypertensive form; Adrenal hyperplasia IV; ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY; ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; FH I; Glucocorticoid-remediable aldosteronism; GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM; Hyperaldosteronism, familial, type I; none provided; P450c11b1 deficiency; Steroid 11-beta-hydroxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP11B1
Accession:NM_000497
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 384
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFR
YDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPM
VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELSPDAIKANSMELTAGSVDTTV
FPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLEQVASSDLVLQNYHIPAG
TLVRVFLYSLGRNPALFPRPERYNPQRWLDIRGSGRNFYHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHLQVETLTQED
IKMVYSFILRPSMFPLLTFRAIN*

Gene Symbol:CYP11B1
Accession:NM_001026213
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 384
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFR
YDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPM
VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELSPDAIKANSMELTAGSVDTTV
FPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLEQVASSDLVLQNYHIPAG
VLKHLQVETLTQEDIKMVYSFILRPSMFPLLTFRAIN*
Variant Samples
Additional References at PubMed
PMID:8506298   PMID:15751602   PMID:20089618   PMID:25741868   PMID:26956189   PMID:28228528   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000667465 CLINVAR
  RCV000763177 CLINVAR
  RCV001386864 CLINVAR
dbSNP (RS) rs764598023 CLINVAR
MedGen C0268292 CLINVAR
  C3661900 CLINVAR
NCBI Gene 106799833 CLINVAR
  CYP11B1 CLINVAR
OMIM 103900 CLINVAR
  202010 CLINVAR
  610613 CLINVAR
SNOMED CT 124214007 CLINVAR