RGD:8574061 Rat Genome Database

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Variant: RGD:8574061 -  Homo sapiens

RGD ID: 8574061
RS ID: rs34882957
ClinVar ID: CV97546
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C9  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 5 39,331,894
GRCh38 5 39,331,792
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_32:g.37762C>T
NG_009894.1:g.37762C>T
NC_000005.10:g.39331792G>A
NC_000005.9:g.39331894G>A
More... 		06/01/2023 missense|missense variant risk factor|likely benign MACULAR DEGENERATION, AGE-RELATED, 15, SUSCEPTIBILITY TO; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C9
Accession:NM_001737
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSACRSFAVAICILEISILTAQYTTSYDPELTESSGSASHIDCRMSPWSEWSQCDPCLRQMFRSRSIEVFGQFNGKRCTD
AVGDRRQCVPTEPCEDAEDDCGNDFQCSTGRCIKMRLRCNGDNDCGDFSDEDDCESEPRPPCRDRVVEESELARTAGYGI
NILGMDSLSTPFDNEFYNGLCNRDRDGNTLTYYRRPWNVASLIYETKGEKNFRTEHYEEQIEAFKSIIQEKTSNFNAAIS
LKFTPTETNKAEQCCEETASSISLHGKGSFRFSYSKNETYQLFLSYSSKKEKMFLHVKGEIHLGRFVMRNRDVVLTTTFV
DDIKALPTTYEKGEYFAFLETYGTHYSSSGSLGGLYELIYVLDKASMKRKGVELKDIKRCLGYHLDVSLAFSEISVGAEF
NKDDCVKRGEGRAVNITSENLIDDVVSLIRGGTRKYAFELKEKLLRGTVIDVTDFVNWASSINDAPVLISQKLSPIYNLV
PVKMKNAHLKKQNLERAIEDYINEFSVRKCHTCQNGGTVILMDGKCLCACPFKFEGIACEISKQKISEGLPALEFPNEK*
Variant Samples
Additional References at PubMed
PMID:24036952   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000077786 CLINVAR
  RCV001438538 CLINVAR
dbSNP (RS) rs34882957 CLINVAR
MedGen C3661900 CLINVAR
  C3810042 CLINVAR
NCBI Gene C9 CLINVAR
OMIM 120940 CLINVAR
  615591 CLINVAR
OMIM Allele 120940.0006 CLINVAR