RGD:8602421 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:8602421 -  Homo sapiens

RGD ID: 8602421
RS ID: rs6472
ClinVar ID: CV27193
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP21A2  LOC106780800  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 32,007,849
GRCh38 6 32,040,072
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.32040072G>C
NM_000500.6:c.803G>C
NM_000500.5:c.806G>C
NP_000491.4:p.Ser269Thr
More...
04/13/2017 missense|missense variant benign|likely benign|not provided 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; AllHighlyPenetrant; CYP21 deficiency; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CYP21A2
Accession:NM_000500
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYRLHLGLQDVVVLNSKRTIEE
AMVKKWADFAGRPEPLTYKLVSRNYPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVA
IEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEM
QLRQHKESLVAGQWRDMMDYMLQGVAQPTMEEGSGQLLEGHVHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQE
ELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWE
RPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVR
LQPRGMGAHSPGQSQ*

Gene Symbol:CYP21A2
Accession:NM_001128590
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 239
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYRLHLGLQDKLVSRNYPDLSL
GDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPA
YYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPTM
EEGSGQLLEGHVHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATI
AEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCL
GEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ*

Gene Symbol:CYP21A2
Accession:NM_001368143
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPF
LRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPTMEEGSGQLLEGHVHMAAVDLLIGGTE
TTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSIS
GYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPS
GDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ*

Gene Symbol:CYP21A2
Accession:NM_001368144
Location:EXON
Amino Acid Prediction: S to T (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPF
LRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPTMEEGSGQLLEGHVHMAAVDLLIGGTE
TTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSIS
GYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPS
GDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ*

Variant Samples
Additional References at PubMed
PMID:1864962   PMID:3038528   PMID:20301350   PMID:24033266   PMID:25741868   PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000024069 CLINVAR
  RCV000029655 CLINVAR
  RCV000055819 CLINVAR
  RCV000252481 CLINVAR
  RCV001529036 CLINVAR
dbSNP (RS) rs6472 CLINVAR
MedGen C0001627 CLINVAR
  C2936858 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene 106780800 CLINVAR
  CYP21A2 CLINVAR
  TNXB CLINVAR
OMIM 201910 CLINVAR
  600985 CLINVAR
  613815 CLINVAR
OMIM Allele 613815.0005 CLINVAR
SNOMED CT 237751000 CLINVAR
  717261006 CLINVAR