RGD:10448650 Rat Genome Database

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Variant: RGD:10448650 -  Homo sapiens

RGD ID: 10448650
RS ID: rs863225429
ClinVar ID: CV214761
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC22  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 49,106,004
GRCh38 X 49,249,543
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_021311.2:g.19079A>G
NC_000023.11:g.49249543A>G
NC_000023.10:g.49106004A>G
NP_054727.1:p.Tyr557Cys
More... 		01/21/2020 missense variant pathogenic|not provided antenatal <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CCDC22
Accession:NM_014008
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 557
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEADRILIHSLRQAGTAVPPDVQTLRAFTTELVVEAVVRCLRVINPAVGSGLSPLLPLAMSARFRLAMSLAQACMDLGY
PLELGYQNFLYPSEPDLRDLLLFLAERLPTDASEDADQPAGDSAILLRAIGSQIRDQLALPWVPPHLRTPKLQHLQGSAL
QKPFHASRLVVPELSSRGEPREFQASPLLLPVPTQVPQPVGRVASLLEHHALQLCQQTGRDRPGDEDWVHRTSRLPPQED
TRAQRQRLQKQLTEHLRQSWGLLGAPIQARDLGELLQAWGAGAKTGAPKGSRFTHSEKFTFHLEPQAQATQVSDVPATSR
RPEQVTWAAQEQELESLREQLEGVNRSIEEVEADMKTLGVSFVQAESECRHSKLSTAEREQALRLKSRAVELLPDGTANL
AKLQLVVENSAQRVIHLAGQWEKHRVPLLAEYRHLRKLQDCRELESSRRLAEIQELHQSVRAAAEEARRKEEVYKQLMSE
LETLPRDVSRLAYTQRILEIVGNIRKQKEEITKILSDTKELQKEINSLSGKLDRTFAVTDELVFKDAKKDDAVRKACKYL
AALHENCSQLIQTIEDTGTIMREVRDLEEQIETELGKKTLSNLEKIREDYRALRQENAGLLGRVREA*

Gene Symbol:CCDC22
Accession:XM_005272599
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 556
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEADRILIHSLRQAGTAVPPDVQTLRAFTTELVVEAVVRCLRVINPAVGSGLSPLLPLAMSARFRLAMSLAQACMDLGY
PLELGYQNFLYPSEPDLRDLLLFLAERLPTDASEDADQPAGDSAILLRAIGSQIRDQLALPWVPPHLRTPKLQHLQGSAL
QKPFHASRLVVPELSSREPREFQASPLLLPVPTQVPQPVGRVASLLEHHALQLCQQTGRDRPGDEDWVHRTSRLPPQEDT
RAQRQRLQKQLTEHLRQSWGLLGAPIQARDLGELLQAWGAGAKTGAPKGSRFTHSEKFTFHLEPQAQATQVSDVPATSRR
PEQVTWAAQEQELESLREQLEGVNRSIEEVEADMKTLGVSFVQAESECRHSKLSTAEREQALRLKSRAVELLPDGTANLA
KLQLVVENSAQRVIHLAGQWEKHRVPLLAEYRHLRKLQDCRELESSRRLAEIQELHQSVRAAAEEARRKEEVYKQLMSEL
ETLPRDVSRLAYTQRILEIVGNIRKQKEEITKILSDTKELQKEINSLSGKLDRTFAVTDELVFKDAKKDDAVRKACKYLA
ALHENCSQLIQTIEDTGTIMREVRDLEEQIETELGKKTLSNLEKIREDYRALRQENAGLLGRVREA*

Gene Symbol:CCDC22
Accession:XR_430506
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:21826058   PMID:31971710  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000202351 CLINVAR
  RCV001028072 CLINVAR
dbSNP (RS) rs863225429 CLINVAR
MedGen C4225419 CLINVAR
  C4551776 CLINVAR
NCBI Gene CCDC22 CLINVAR
OMIM 220210 CLINVAR
  300859 CLINVAR
  300963 CLINVAR
OMIM Allele 300859.0002 CLINVAR