RGD:13817139 Rat Genome Database

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Variant: RGD:13817139 -  Homo sapiens

RGD ID: 13817139
RS ID: rs782651043
ClinVar ID: CV567055
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C12orf57  LOC127823546  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 7,053,330
GRCh38 12 6,944,167
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_138425.3:c.46G>A
NP_001288763.1:p.Ala16Thr
NP_001288766.1:p.Ala16Thr
NG_034262.1:g.5351G>A
More... 		06/21/2018 5 prime utr variant|intron variant uncertain significance Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; Dysmorphism, corpus callosum agenesis and colobomas; MENTAL RETARDATION WITH OR WITHOUT CRANIOFACIAL DYSMORPHISM, OCULAR COLOBOMA, OR ABNORMAL CORPUS CALLOSUM
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C12orf57
Accession:NM_001301838
Location:5UTRS;EXON

Gene Symbol:C12orf57
Accession:NM_001301837
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAALSAEQTKVVLAEVIQAFSAPENAVRMDEARDNACNDMGVLKFARLVKSYEAQDPEIASLSGKLKALFLPP
MTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_001301834
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAALSAEQTKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLK
FARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NM_138425
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASASTQPAALSAEQTKVVLAEVIQAFSAPENAVRMDEARDNACNDMGKMLQFVLPVATQIQQEVIKAYGFSCDGEGVLK
FARLVKSYEAQDPEIASLSGKLKALFLPPMTLPPHGPAAGGSVAAS*

Gene Symbol:C12orf57
Accession:NR_126035
Location:EXON;NON-CODING

Gene Symbol:C12orf57
Accession:NM_001301836
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000692810 CLINVAR
dbSNP (RS) rs782651043 CLINVAR
MedGen C1857512 CLINVAR
NCBI Gene C12orf57 CLINVAR
OMIM 218340 CLINVAR
  615140 CLINVAR