rs146124466 Rat Genome Database

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Variant: rs146124466 -  Homo sapiens

RGD ID: 8617530
RS ID: rs146124466
ClinVar ID: CV71453
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B1  LOC106799833  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 143,957,183
GRCh38 8 142,875,767
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007954.1:g.9054C>T
NC_000008.11:g.142875767G>A
NC_000008.10:g.143957183G>A
NP_000488.3:p.Gln356Ter
More... 		05/13/2020 nonsense pathogenic|not provided 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_001026213
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFR
YDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPM
VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELSPDAIKANSMELTAGSVDTTV
FPLLMTLFELARNPNVQQALRQESLAAAASISEHP*KATTELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAG
VLKHLQVETLTQEDIKMVYSFILRPSMFPLLTFRAIN*

Gene Symbol:CYP11B1
Accession:NM_000497
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFR
YDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPM
VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELSPDAIKANSMELTAGSVDTTV
FPLLMTLFELARNPNVQQALRQESLAAAASISEHP*KATTELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAG
TLVRVFLYSLGRNPALFPRPERYNPQRWLDIRGSGRNFYHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHLQVETLTQED
IKMVYSFILRPSMFPLLTFRAIN*
Variant Samples
Additional References at PubMed
PMID:8506298   PMID:8964882   PMID:9435454   PMID:12966519   PMID:17371482   PMID:23345044   PMID:24022297   PMID:25741868   PMID:26467025   PMID:26476331   PMID:27821898   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000050222 CLINVAR
  RCV000711392 CLINVAR
  RCV000763178 CLINVAR
dbSNP (RS) rs146124466 CLINVAR
MedGen C0268292 CLINVAR
  C3661900 CLINVAR
NCBI Gene 106799833 CLINVAR
  CYP11B1 CLINVAR
OMIM 103900 CLINVAR
  202010 CLINVAR
  610613 CLINVAR
SNOMED CT 124214007 CLINVAR