RGD:12907349 Rat Genome Database

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Variant: RGD:12907349 -  Homo sapiens

RGD ID: 12907349
RS ID: rs202242769
ClinVar ID: CV227295
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP21A2  LOC106780800  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 32,008,500
GRCh38 6 32,040,723
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001368144.2:c.769G>A
NM_001128590.4:c.1084G>A
NM_001368143.2:c.769G>A
NG_007941.3:g.7419G>A
More... 		05/28/2019 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; AllHighlyPenetrant; CYP21 deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP21A2
Accession:NM_001128590
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYRLHLGLQDKLVSRNYPDLSL
GDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPA
YYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSM
EEGSGQLLEGHVHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATI
AEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGTHLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCL
GEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ*

Gene Symbol:CYP21A2
Accession:NM_001368143
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPF
LRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTE
TTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSIS
GYDIPEGTVIIPNLQGTHLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPS
GDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ*

Gene Symbol:CYP21A2
Accession:NM_001368144
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 257
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPF
LRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTE
TTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSIS
GYDIPEGTVIIPNLQGTHLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPS
GDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ*

Gene Symbol:CYP21A2
Accession:NM_000500
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 392
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYRLHLGLQDVVVLNSKRTIEE
AMVKKWADFAGRPEPLTYKLVSRNYPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVA
IEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEM
QLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQE
ELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGTHLDETVWE
RPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVR
LQPRGMGAHSPGQSQ*
Variant Samples
Additional References at PubMed
PMID:17119906   PMID:19501079   PMID:19531083   PMID:21228398   PMID:21750395   PMID:23359698   PMID:24196000   PMID:25538881   PMID:25741868   PMID:25741909   PMID:26300845   PMID:26467025  
PMID:28487735   PMID:28492532   PMID:29035424   PMID:30611409   PMID:32616876   PMID:33552137   PMID:36341008  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000490344 CLINVAR
  RCV001357310 CLINVAR
  RCV003155127 CLINVAR
dbSNP (RS) rs202242769 CLINVAR
MedGen C2936858 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene 106780800 CLINVAR
  CYP21A2 CLINVAR
OMIM 201910 CLINVAR
  613815 CLINVAR
SNOMED CT 717261006 CLINVAR