RGD:11596297 Rat Genome Database

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Variant: RGD:11596297 -  Homo sapiens

RGD ID: 11596297
RS ID: rs61735307
ClinVar ID: CV293320
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SERPINI1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 167,506,956
GRCh38 3 167,789,168
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
NM_005025.4:c.40A>G
NG_008217.1:g.58525A>G
NC_000003.12:g.167789168A>G
NC_000003.11:g.167506956A>G
More...
01/22/2019 missense variant benign|likely benign|conflicting interpretations of pathogenicity adult <1 / 1 000 000 AllHighlyPenetrant; Encephalopathy, familial, with Collins bodies
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SERPINI1
Accession:NM_001122752
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFLGLFSLLVLQGMATGATFPEEAIADLSVNMYNRLRATGEDENILFSPLSIALAMGMMELGAQGSTQKEIRHSMGYDS
LKNGEEFSFLKEFSNMVTAKESQYVMKIANSLFVQNGFHVNEEFLQMMKKYFNAAVNHVDFSQNVAVANYINKWVENNTN
NLVKDLVSPRDFDAATYLALINAVYFKGNWKSQFRPENTRTFSFTKDDESEVQIPMMYQQGEFYYGEFSDGSNEAGGIYQ
VLEIPYEGDEISMMLVLSRQEVPLATLEPLVKAQLVEEWANSVKKQKVEVYLPRFTVEQEIDLKDVLKALGITEIFIKDA
NLTGLSDNKEIFLSKAIHKSFLEVNEEGSEAAAVSGMIAISRMAVLYPQVIVDHPFFFLIRNRRTGTILFMGRVMHPETM
NTSGHDFEEL*

Gene Symbol:SERPINI1
Accession:NM_005025
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFLGLFSLLVLQGMATGATFPEEAIADLSVNMYNRLRATGEDENILFSPLSIALAMGMMELGAQGSTQKEIRHSMGYDS
LKNGEEFSFLKEFSNMVTAKESQYVMKIANSLFVQNGFHVNEEFLQMMKKYFNAAVNHVDFSQNVAVANYINKWVENNTN
NLVKDLVSPRDFDAATYLALINAVYFKGNWKSQFRPENTRTFSFTKDDESEVQIPMMYQQGEFYYGEFSDGSNEAGGIYQ
VLEIPYEGDEISMMLVLSRQEVPLATLEPLVKAQLVEEWANSVKKQKVEVYLPRFTVEQEIDLKDVLKALGITEIFIKDA
NLTGLSDNKEIFLSKAIHKSFLEVNEEGSEAAAVSGMIAISRMAVLYPQVIVDHPFFFLIRNRRTGTILFMGRVMHPETM
NTSGHDFEEL*

Gene Symbol:SERPINI1
Accession:XM_017006618
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAFLGLFSLLVLQGMATGATFPEEAIADLSVNMYNRLRATGEDENILFSPLSIALAMGMMELGAQGSTQKEIRHSMGYDS
LKNGEEFSFLKEFSNMVTAKESQYVMKIANSLFVQNGFHVNEEFLQMMKKYFNAAVNHVDFSQNVAVANYINKWVENNTN
NLVKDLVSPRDFDAATYLALINAVYFKGNWKSQFRPENTRTFSFTKDDESEVQIPMMYQQGEFYYGEFSDGSNEAGGIYQ
VLEIPYEGDEISMMLVLSRQEVPLATLEPLVKAQLVEEWANSVKKQKVEVYLPRFTVEQEIDLKDVLKALGITEIFIKDA
NLTGLSDNKEIFLSKAIHKSFLEVNEEGSEAAAVSGMIAISRMAVLYPQVIVDHPFFFLIRNRRTGTILFMGRVMHPETM
NTSGHDFEEL*

Variant Samples
Additional References at PubMed
PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000380725 CLINVAR
  RCV000518477 CLINVAR
dbSNP (RS) rs61735307 CLINVAR
MedGen C1858680 CLINVAR
  CN169374 CLINVAR
NCBI Gene SERPINI1 CLINVAR
OMIM 602445 CLINVAR
  604218 CLINVAR