RGD:156178936 Rat Genome Database

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Variant: RGD:156178936 -  Homo sapiens

RGD ID: 156178936
ClinVar ID: CV1996834
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B1  LOC106799833  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 143,957,753
GRCh38 8 142,876,337
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000497.4:c.858C>T
NM_001026213.1:c.858C>T
NG_046132.1:g.2204G>A
NG_007954.1:g.8484C>T
More... 		04/06/2023 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP11B1
Accession:NM_001026213
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFR
YDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPM
VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQ*TSIVAELLLNAELSPDAIKANSMELTAGSVDTTV
FPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAG
VLKHLQVETLTQEDIKMVYSFILRPSMFPLLTFRAIN*

Gene Symbol:CYP11B1
Accession:NM_000497
Location:EXON
Amino Acid Prediction: Y to * (nonsynonymous)
Amino Acid Position: 286
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFR
YDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPM
VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQ*TSIVAELLLNAELSPDAIKANSMELTAGSVDTTV
FPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAG
TLVRVFLYSLGRNPALFPRPERYNPQRWLDIRGSGRNFYHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHLQVETLTQED
IKMVYSFILRPSMFPLLTFRAIN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002642964 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP11B1 CLINVAR
  LOC106799833 CLINVAR
OMIM 610613 CLINVAR